{"total":410,"page":1,"pageCount":21,"query":"","hits":[{"id":"hum0612","version":1,"url":"https://humandbs.dbcls.jp/research/hum0612/v1","datePublished":"2026-10-28","versions":[{"version":1,"datePublished":"2026-10-28"}],"title":{"ja":"新規遺伝学的検査解析データの制限公開データベース登録研究","en":"Registered research projects for new genetic test analysis data in the restricted-access database"},"summary":{"aims":{"ja":"現行の遺伝学的検査は、エクソン・キャプチャー・シーケンス法とMLPA法が主流であり、検出されるバリアントはエクソンおよびその周辺の点変異とエクソンのコピー数異常に限られる。我々は、構造異常、深部イントロンバリアント、モザイクバリアントなども検出可能である、vLAS (very long amplicon sequencing)、rLAS (RNA long amplicon sequencing)、TgCap (targeted genome capture sequencing)といった新規検査法を開発し論文発表してきた。本研究の目的は、開発した検査法により新規知見のあった症例の論文報告の際や、新規の遺伝学的検査法を開発した際の論文報告の際に、個人情報が適切に取り扱われるようにNBDCヒトデータベースへ制限公開登録し、他の研究者の検証や二次利用に資するようにすることにある。","en":"The current genetic testing methods are exon capture sequencing and MLPA and limited to detecting point mutations in exons, as well as copy number of exons. We have developed and published papers on novel testing methods, such as vLAS (very long amplicon sequencing), rLAS (RNA long amplicon sequencing) and TgCap (targeted genome capture sequencing), which can detect structural abnormalities, deep intronic and mosaic variants. This study aims to ensure that personal information is handled appropriately when reporting cases with new findings or the development of new genetic testing methods. To this end, we will register these data with the NBDC Human Database for restricted access, thereby facilitating verification and secondary use by other researchers."},"methods":{"ja":"vLAS：末梢血DNAを約20kbのLong-PCR setで増幅し、対象遺伝子のイントロンを含む全ゲノム領域をカバーした。アンプリコンをプールし、Nextera (illumina)でライブラリ形成を行い、MiSeq (illumima) でシークエンスした。\n\nrLAS：全血より末梢単核球を分離。Trizol で全RNAを抽出しoligo dTプライマーで1本鎖cDNAを作成。これを鋳型にERCC4遺伝子の全長ｍRNAをLong RT-PCRで増幅。増幅産物よりNextera (illumina)でライブラリ形成を行い、MiSeq (illumima) でシークエンスした。\n\n末梢血DNAを用いたvLASでバリアントを同定し、末梢単核球総RNAを用いたrLASでスプライシング異常の状態を定量分析した。","en":"vLAS: We amplified peripheral blood DNA using a long PCR set of approximately 20 kb, which covered the entire genomic region, including the introns of the target gene. The amplicons were then pooled and libraries were prepared using Nextera (Illumina), after which they were sequenced on a MiSeq (Illumina).\n\nrLAS: Peripheral mononuclear cells were isolated from whole blood. Total RNA was extracted using Trizol and single-stranded cDNA was synthesized using oligo-dT primers. The full-length mRNA of the ERCC4 gene was then amplified by Long RT-PCR using this as a template. A library was constructed from the amplification products using Nextera (Illumina) technology, and the library was sequenced on a MiSeq (Illumina).\n\nThe variant was identified using vLAS on peripheral blood DNA. The splicing abnormality was quantitatively analyzed using rLAS on total RNA from peripheral mononuclear cells."},"targets":{"ja":"色素性乾皮症1症例（vLAS 1検体、rLAS 1検体）\nERCC4遺伝子の深部イントロンに新規のスプライシング変異NC_000016.10(NM_005236.3):c.207+196T>A が同定されタイプFと診断された症例","en":"Xeroderma pigmentosum: 1 case (one vLAS specimen and one rLAS specimen)\nA novel splicing variant, NC_000016.10(NM_005236.3):c.207+196T>A, was identified in a deep intron of the ERCC4 gene and the patient was diagnosed with type F."},"url":{"ja":[{"url":"https://www.kanazawa-med.ac.jp/laboratories/mri-genome-medicine.html","text":"https://www.kanazawa-med.ac.jp/laboratories/mri-genome-medicine.html"}],"en":[{"url":"https://www.kanazawa-med.ac.jp/laboratories/en/mri-genome-medicine.html","text":"https://www.kanazawa-med.ac.jp/laboratories/en/mri-genome-medicine.html"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"色素性乾皮症：1症例\n（日本人）","en":"xeroderma pigmentosum: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS（Targeted DNA-seq、Targeted RNA-seq）","en":"NGS (Targeted DNA-seq, Targeted RNA-seq)"}},"releaseNote":{"ja":"色素性乾皮症1症例の末梢血より抽出したDNAを用いたTargeted DNA-seq（vLAS）および末梢血単核球から抽出したRNAを用いたTargeted RNA-seq（rLAS）解析データをfastqファイルにて提供する。","en":"DNA extracted from peripheral blood cells and RNA extracted from peripheral mononuclear cells obtained from 1 xeroderma pigmentosum patient were used for Targeted DNA-seq (vLAS) and Targeted RNA-seq (rLAS) analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"新井田 要","en":"Yo Niida"},"organization":{"name":{"ja":"金沢医科大学 総合医学研究所 先端医療研究領域 ゲノム疾患研究分野","en":"Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"NA","en":"NA"},"agency":{"ja":"金沢医科大学研究費","en":"Kanazawa Medical University"},"grantIds":["11181","26699"]}],"relatedPublications":[{"title":"A case with Xeroderma Pigmentosum Type F manifested a mild phenotype due to a deep intronic variant of the ERCC4 gene","doi":"https://doi.org/10.3389/jcia.2026.16180","datasets":["JGAD001129"]}],"datasets":["JGAD001129"],"controlledAccessUsers":[]},{"id":"hum0489","version":1,"url":"https://humandbs.dbcls.jp/research/hum0489/v1","datePublished":"2026-10-27","versions":[{"version":1,"datePublished":"2026-10-27"}],"title":{"ja":"骨軟部肉腫における遺伝子変異スペクトラムの解析","en":"Genetic Mutation Spectrum Analysis in Bone and Soft Tissue Sarcomas"},"summary":{"aims":{"ja":"骨軟部肉腫は難治性の稀少がんである。およそ30%の患者に染色体転座に起因する融合遺伝子形成を認めるが、それ以外の遺伝子変異やゲノム異常に関する理解は進んでいない。本研究では、融合遺伝子陽性骨軟部肉腫の進展・悪性化に重要と考えらえる遺伝子異常を明らかにし、肉腫の病態解析と新たな分子標的治療の開発に資することを目的とする。","en":"Bone and soft tissue sarcomas are rare, incurable cancers. Approximately 30% of patients have fusion gene formation due to chromosomal translocations, but other genetic mutations and genomic abnormalities are not well understood. The aim of this study is to identify genetic abnormalities that may be important in the progression and malignant transformation of fusion gene-positive bone and soft tissue sarcomas and to contribute to the analysis of sarcoma pathogenesis and the development of novel molecularly targeted therapies."},"methods":{"ja":"全エクソン塩基配列解析、RNA塩基配列解析","en":"whole exon sequencing and RNA sequencing"},"targets":{"ja":"・がん研有明病院において、粘液型脂肪肉腫と診断された患者の外科手術切除検体。\nWES：43症例の腫瘍組織43検体\nRNA-seq：72症例の腫瘍組織72検体\n43症例はWESおよびRNA-seqを実施\n・ヒト粘液型脂肪肉腫細胞株（402-91、1955-91、2645-94）\nWES：3検体","en":"- Surgically resected tumors from patients diagnosed with myxoid liposarcoma at the Cancer Institute Hospital of Japanese Foundation For Cancer Research.\nWES: 43 patients (43 tumor tissue samples)\nRNA-seq: 72 patients (72 tumor tissue samples)\nFor 43 cases, both WES and RNA-seq analyses were performed.\n- human myxoid liposarcoma cell lines (402-91、1955-91、2645-94)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing,\nExpression profiling"},"targets":{"ja":"粘液型脂肪肉腫：72症例\n（日本人）\nヒト粘液型脂肪肉腫細胞株：3検体\n（細胞株）","en":"myxoid liposarcoma: 72cases\n(Japanese)\nヒト粘液型脂肪肉腫細胞株: 3 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS（Exome、RNA-seq）","en":"NGS (Exome, RNA-seq)"}},"releaseNote":{"ja":"粘液型脂肪肉腫43症例の腫瘍組織より抽出したDNAを用いたwhole exome sequencing解析データ、および、上記を含む72症例の腫瘍組織より抽出したRNAを用いたRNA sequencing解析データ、ならびにヒト粘液型脂肪肉腫細胞株3検体より抽出したDNAを用いたwhole exome sequencing解析データをfastqファイルにて提供する。","en":"DNA/RNA extracted from tumor tissues of 72 myxoid liposarcoma patients were used for the whole exome sequencing and RNA sequencing analyses. Also, DNA extracted from 3 myxoid liposarcoma cell-lines were used for the whole exome sequencing. Fastq files are provided."},"dataProviders":[{"name":{"ja":"植田 幸嗣","en":"Koji Ueda"},"organization":{"name":{"ja":"がん研究会 がんプレシジョン医療研究センター 分析生化学研究部","en":"Project for Realization of Personalized Cancer Medicine, Cancer Precision Medicine Center, Japanese Foundation For Cancer Research"}}}],"researchProjects":[],"grants":[{"title":{"ja":"骨軟部腫瘍における診断マーカーの同定と腫瘍概念の再構築を目指した融合遺伝子の探索","en":"Identification of diagnostic biomarker and novel fusion genes of bone and soft tissue sarcoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["16H02676"]},{"title":{"ja":"ゲノム解析による骨軟部腫瘍の多様性の解明と治療標的・バイオマーカーの探索","en":"Screening of therapeutic targets and biomarkers for bone and soft tissue tumors by multiomics analysis"},"agency":{"ja":"日本医療研究開発機構（AMED）次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21cm0106578"]}],"relatedPublications":[{"title":"Proteogenomic characterization of myxoid liposarcoma reveals molecular features associated with poor prognosis","datasets":["JGAD000909"]}],"datasets":["JGAD000909"],"controlledAccessUsers":[]},{"id":"hum0615","version":1,"url":"https://humandbs.dbcls.jp/research/hum0615/v1","datePublished":"2026-10-23","versions":[{"version":1,"datePublished":"2026-10-23"}],"title":{"ja":"消化器悪性腫瘍・前がん病変に対する遺伝子解析研究","en":"Genomic Analysis of Digestive System Malignancies and Precancerous Lesions"},"summary":{"aims":{"ja":"京都大学医学部附属病院における消化器悪性腫瘍、および消化器前がん病変の遺伝子変異を網羅的に検証し、遺伝子プロファイルと臨床病理学的因子の関係性を明らかにする。","en":"To comprehensively characterize genetic alterations in digestive system malignancies and premalignant lesions at Kyoto University Hospital and elucidate the associations between their genetic profiles and clinicopathological factors."},"methods":{"ja":"胆管内乳頭状腫瘍（IPNB）の手術検体から非癌部および癌部組織を採取した。DNAを抽出し、全エクソン解析を行った。","en":"Tumor and matched non-tumor tissues were collected from surgically resected IPNB specimens. DNA was extracted from each tissue sample and subjected to whole-exome sequencing."},"targets":{"ja":"胆管内乳頭状腫瘍（intraductal papillary neoplasms of the bile duct：IPNB）：10症例\n腫瘍組織：22検体、非腫瘍組織：10検体","en":"intraductal papillary neoplasm of the bile duct (IPNB): 10 cases\n22 tumor tissues and 10 matched non-tumor tisuues"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"胆管内乳頭状腫瘍：10症例\n（日本人）","en":"IPNB: 10 cases\n(Japanese)"},"typeOfData":{"ja":"NGS（Exome）","en":"NGS (Exome)"}},"releaseNote":{"ja":"胆管内乳頭状腫瘍10症例の腫瘍組織および非腫瘍組織から抽出したDNAを用いたwhole-exome sequencing解析結果をfastqファイルにて提供する。","en":"DNA extracted from tumor tissues and non-tumor tissues of 10 intraductal papillary neoplasms of the bile duct (IPNB) patients were used for the whole exome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"石井 隆道","en":"Takamichi Ishii"},"organization":{"name":{"ja":"京都大学大学院 医学研究科 消化器腫瘍制御・臓器再生外科学講座","en":"Department of Surgery for Abdominal Oncology and Organ Regeneration, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[{"name":{"ja":null,"en":null},"url":{"ja":[{"url":"https://hbptsurgery.kuhp.kyoto-u.ac.jp/study/liver-regeneration-research/","text":"https://hbptsurgery.kuhp.kyoto-u.ac.jp/study/liver-regeneration-research/"}],"en":null}}],"grants":[{"title":{"ja":"新規治療法を目指した細胆管細胞癌の臨床病理学解析およびゲノム解析による統合解析","en":"Integrated Clinicopathological and Genomic Analysis of Cholangiolocellular Carcinoma Aimed at Developing Novel Therapeutic Strategies"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["24K11864"]},{"title":{"ja":"ゲノム変異に基づいたIPNBから胆管癌への進行過程の探索","en":"Investigation of the Progression from Intraductal Papillary Neoplasm of the Bile Duct to Cholangiocarcinoma Based on Genomic Alterations"},"agency":{"ja":"一般財団法人藤原記念財団 少壮研究者奨励金","en":"Fujiwara Memorial Foundation Research Grant"},"grantIds":["NA"]}],"relatedPublications":[],"datasets":["JGAD001128"],"controlledAccessUsers":[]},{"id":"hum0030","version":6,"url":"https://humandbs.dbcls.jp/research/hum0030/v6","datePublished":"2026-10-22","versions":[{"version":1,"datePublished":"2015-04-21"},{"version":2,"datePublished":"2024-05-10"},{"version":3,"datePublished":"2024-07-05"},{"version":4,"datePublished":"2025-07-01"},{"version":5,"datePublished":"2026-04-22"},{"version":6,"datePublished":"2026-10-22"}],"title":{"ja":"婦人科臓器に発生する悪性腫瘍の発症に関連する分子生物学的異常の検索","en":"The Molecular Biological Analysis about Occurrence and Malignant Transformation in gynecological carcinogenesis"},"summary":{"aims":{"ja":"卵巣明細胞腺がんと他の組織型の卵巣がんにおけるゲノムコピー数の違いを比較することに加え、全エクソンシークエンス、RNAシークエンスにより、卵巣明細胞腺がんの分子生物学的特徴を明らかにする。さらに、高異型度卵巣漿液性がんにおいても同様の網羅的ゲノム解析を行い、相同組換修復欠損のバイオマーカー、サブタイプ、予後規定因子を同定し、PARP阻害薬の有用性についても検討する。さらに、全エクソンシークエンス解析結果をもとに相同組換え修復欠損（HRD）の有無を判定し、HRD陽性症例に対するPARP阻害薬オラパリブの有効性・安全性を調べる医師主導治験を行う。\nまた、子宮体がんにおける免疫制御メカニズムを理解することは、免疫療法戦略の改善に重要である。そのため、腫瘍免疫微小環境とHLAクラスI発現の関係を解明することで、特にCD8+ T細胞浸潤パターンへの影響を明らかにする。異なる組織学的、分子生物学的サブタイプにおける免疫回避の分子基盤を解明することで、個別化免疫療法の開発に貢献することを目指す。\nまた、がん腫成分と肉腫成分が同一腫瘍内に共存する、稀ではあるが予後不良の子宮内膜悪性腫瘍である子宮がん肉腫に対し、微小組織切片からのバルクRNAシークエンスと Xenium 空間トランスクリプトーム解析を統合的に実施し、100万個以上の細胞の遺伝子発現を空間的に解析した。上皮間葉転換（EMT）の空間的構成、がん腫から肉腫への分化軌道、EMT中間状態の細胞集団、および EMT と腫瘍免疫微小環境との関連を明らかにすることを目的とする。これらの知見は、子宮がん肉腫における腫瘍可塑性と細胞状態遷移の分子機構解明に貢献することが期待される。","en":"To clarify the biological difference between clear cell carcinoma and other histological subtypes in ovarian carcinomas by comparing copy number variants, and to identify molecular subtypes and carcinogenesis in clear cell ovarian carcinomas by whole-exome sequencing and RNA-sequencing. Then, characterize high-grade serous carcinomas by NGS-based, integrative genomic analyses, with focus on homologous recombination deficiency, molecular subtypes, and prognostic factors and effectiveness of PARP inhibitor. Based on the results of whole-exome sequencing, an investigator-initiated, phase 2 clinical trial will be conducted to evaluate the efficacy and safety of the PARP inhibitor olaparib in HRD-positive cases.\nUnderstanding the immune regulatory mechanisms in endometrial cancer is crucial for improving immunotherapy strategies. To elucidate the relationship between the tumor immune microenvironment and HLA class I expression, with a particular focus on their impact on CD8+ T cell infiltration patterns. By investigating the molecular basis of immune evasion across different histological and molecular subtypes, we will generate evidence that will contribute to the development of personalized immunotherapy strategies.\nUterine carcinosarcoma (UCS) is a rare but aggressive endometrial malignancy in which carcinomatous and sarcomatous components coexist within the same tumor. Using integrated microdissection-based bulk RNA sequencing and Xenium spatial transcriptomics, we profiled over one million cells across eight UCS cases to elucidate the spatial organization of epithelial-mesenchymal transition (EMT), the carcinoma-to-sarcoma differentiation trajectory, EMT-intermediate cellular states, and the relationship between EMT and the tumor immune microenvironment. These findings aim to clarify the mechanisms of tumor plasticity and cellular-state transition in uterine carcinosarcoma."},"methods":{"ja":"がんゲノムコピー数解析（ゲノムワイドSNPタイピングアレイを使用し約26万個のSNPプローブの蛍光強度を測定し、がんと正常を比較することでコピー数異常を検出する）、Whole Exome sequencing、RNA-seq、メチル化アレイ、発現アレイ、Target bisulfite sequencing、Xenium in situ 空間トランスクリプトーム解析","en":"Copy Number Variation Analysis: Gene Chip Human Mapping 250K Nsp Arrays were used for detecting the signal intensity of about 260 thousands SNPs and intensities of ovarian clear cell carcinoma were compared to the ones of non-carcinoma.\nWhole Exome sequencing and RNA-seq\nMethylation array and Expression array\nTarget bisulfite sequencing\nXenium in situ spatial transcriptome analysis"},"targets":{"ja":"卵巣がん57（類内膜がん12）＋111＋31＋189症例、子宮体がん86症例、子宮がん肉腫8症例","en":"Ovarian cancer: 57 cases (12 endometrioid carcinoma) + 111 cases + 31 + 189 cases, Endometrial cancer: 86 cases, Uterine carcinosarcoma: 8 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"ゲノムワイド\nCNV\n配列決定\n発現\nメチル化","en":"Genome-wide CNV analysis, sequencing, expression profiling, methylation profiling"},"targets":{"ja":"卵巣癌：57＋111＋31＋189症例\n子宮体癌：86症例\n子宮癌肉腫：8症例\n（日本人）","en":"57 + 111 + 31 + 189 Ovarian carcinomas\n86 Endometrial cancers\n8 Uterine carcinosarcomas\n(Japanese)"},"typeOfData":{"ja":"SNP-chip\nNGS\n（Exome、RNA-seq、Target bisulfite-seq）\nメチル化アレイ\nヒト全ゲノム発現アレイ\nXenium In Situ Gene Expression","en":"SNP-chip, NGS (Exome, RNA-seq, Target bisulfite-seq), Methylation array, Expression array, Xenium In Situ Gene Expression"}},"releaseNote":{"ja":"・子宮がん肉腫8症例の腫瘍組織を用いたXenium in situ空間トランスクリプトーム解析データをtif、h5、parquetファイル形式で提供する。\n・子宮がん肉腫8症例の腫瘍組織から抽出したRNAを用いたRNA-seq解析データをfastqファイル形式で提供する。","en":"- Tumor tissues from patients with uterine carcinosarcoma were used for the Xenium in situ spatial transcriptome analysis. Tif, H5 and parquet files are provided.\n- RNA extracted from tumor tissues of patients with uterine carcinosarcoma were used for the RNA sequencing analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"織田 克利","en":"Katsutoshi Oda"},"organization":{"name":{"ja":"東京大学医学部 産科婦人科学教室","en":"Department of Obstetrics and Gynecology, Faculty of Medicine, The University of Tokyo"}}}],"researchProjects":[],"grants":[{"title":{"ja":"統合的ゲノム解析によるがん細胞集団進化の解明","en":"An Integrated Genomic Analysis on Evolution of Cancer Cell Population"},"agency":{"ja":"科学研究費助成事業 基盤研究（S）","en":"KAKENHI Grant-in-Aid for Scientific Research (S)"},"grantIds":["24221011"]},{"title":{"ja":"子宮体癌・卵巣癌においてアポトーシスを誘導する新規分子標的治療法の探","en":"Search for the New Molecular Targeted Therapies and Biomarkers Inducing Apoptosis in Endometrial Carcinoma and Ovarian Carcinoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["26462515"]},{"title":{"ja":"卵巣明細胞腺癌における遺伝子プロファイルに基づく新規分子標的治療法の探索","en":"Search for the New Molecular Targeted Therapies Based on Genetic Profiles of Ovarian Clear Cell Carcinoma"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["25861473"]},{"title":{"ja":"「分子プロファイリングによる新規標的同定を通じた難治がん治療法開発」 （進行性卵巣がんの治療感受性を規定する遺伝子変異の同定）","en":"Development of the Intractable Cancer Therapies through the New Target Identification by the Molecular Profiling (The Identification of the Gene Variation to Regulate the Treatment Sensitivity of the Progressive Ovarian Cancer)"},"agency":{"ja":"次世代がん研究シーズ戦略的育成プログラム（P-DIRECT）","en":"Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT)"},"grantIds":["11114014"]},{"title":{"ja":"卵巣明細胞癌におけるSWI/SNFクロマチンリモデリング複合体の異常と発癌過程","en":"Carcinogenesis and Disorder of SWI/SNF Chromatin Remodeling Complex in Ovarian Clear Cell Carcinoma"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["22K16873"]},{"title":{"ja":"卵巣癌における相同組換修復欠損に着目した新規分子標的治療法の探索","en":"Investigation of Novel Molecularly Targeted Therapies Focusing on Homologous Recombination Repair Defeciency in Ovarian Cancer"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["18K09249"]},{"title":{"ja":"卵巣癌におけるゲノム解析とオルガノイドによる薬剤感受性試験の臨床的有用性の検証","en":"Clinical utility of genetic analysis and organoid-based drug sensitivity testing in ovarian cancer."},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["21H03074"]},{"title":{"ja":"卵巣癌/子宮体癌における薬剤感受性メチル化診断キットの開発とLiquid Biopsyへの応用","en":"Development of a Drug-Sensitive Methylation Diagnostic Kit and Application to Liquid Biopsy for Ovarian/Uterine Cancer"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["24K02584"]}],"relatedPublications":[{"title":"Integrated Copy Number and Expression Analysis Identifies Profiles of Whole-Arm Chromosomal Alterations and Subgroups with Favorable Outcome in Ovarian Clear Cell Carcinomas","doi":"https://doi.org/10.1371/journal.pone.0128066","datasets":["JGAD000022","JGAD000682"]},{"title":"The frequency of neoantigens per somatic mutation rather than overall mutational load or number of predicted neoantigens per se is a prognostic factor in ovarian clear cell carcinoma","doi":"https://doi.org/10.1080/2162402x.2017.1338996","datasets":["JGAD000682"]},{"title":"Neoantigen load and HLA-class I expression identify a subgroup of tumors with a T-cell-inflamed phenotype and favorable prognosis in homologous recombination-proficient high-grade serous ovarian carcinoma","doi":"https://doi.org/10.1136/jitc-2019-000375","datasets":["JGAD000682"]},{"title":"Integrated genomic/epigenomic analysis stratifies subtypes of clear cell ovarian carcinoma, highlighting their cellular origin","doi":"https://doi.org/10.1038/s41598-024-69796-4","datasets":["JGAD000682"]},{"title":"HLA class I dysregulation and immune microenvironment across endometrial cancer molecular subtypes","datasets":["JGAD001041"]}],"datasets":["JGAD000022","JGAD000682","JGAD000931","JGAD001041","JGAD001125"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"小西 郁生","en":"Ikuo Konishi"},"affiliation":{"ja":"婦人科産科学, 京都大学大学院医学研究科器官外科学","en":"Department of Gynecology and Obstetrics, Kyoto University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"多様な臨床情報を考慮した婦人科悪性腫瘍患者のオミックス解析（全ゲノム・全トランスクリプトーム・プロテオーム・メタボローム解析）による個別化治療の探索","en":"Integrated analyses of omics (genomics, transcriptomics, proteomics and metabolomics) associated with clinical variables for developing indivisualized treatment in gynecologycal malignancy"},"periodStart":"2015-07-03","periodEnd":"2017-09-04","datasets":["JGAD000022"]},{"principalInvestigator":{"ja":"万代 昌紀","en":"Masaki Mandai"},"affiliation":{"ja":"婦人科学産科学教室, 京都大学医学部医学研究科","en":"department of Gynecology and Obstetrics, Kyoto University Faculty of Medicene"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"多様な臨床情報を考慮した婦人科悪性腫瘍患者のオミックス解析（全ゲノム・全トランスクリプトーム・プロテオーム・メタボローム解析）による個別化治療の探索","en":"Integrated analyses of omics (genomics, transcriptomics, proteomics and metabolomics) associated with clinical variables for developing indivisualizedtreatment in gynecological malignancy"},"periodStart":"2018-10-04","periodEnd":"2025-04-14","datasets":["JGAD000022"]},{"principalInvestigator":{"ja":"松村 謙臣","en":"Noriomi Matsumura"},"affiliation":{"ja":"産科婦人科学教室, 近畿大学医学部","en":"Obstetrics and Gynecology, Kindai University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"JGOG3017-TR1：エクソームシークエンスデータを有する卵巣明細胞癌のRNAseq解析","en":"Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1"},"periodStart":"2024-10-15","periodEnd":"2027-12-31","datasets":["JGAD000022","JGAD000682","JGAD000931"]},{"principalInvestigator":{"ja":"山口 建","en":"Ken Yamaguchi"},"affiliation":{"ja":"婦人科学産婦人科学教室, 京都大学","en":"Gynecology and Obstetrics, Kyoto University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"JGOG3017-TR1：エクソームシークエンスデータを有する卵巣明細胞癌のRNAseq解析","en":"Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1"},"periodStart":"2024-10-22","periodEnd":"2027-12-31","datasets":["JGAD000022","JGAD000682","JGAD000931"]}]},{"id":"hum0553","version":1,"url":"https://humandbs.dbcls.jp/research/hum0553/v1","datePublished":"2026-10-14","versions":[{"version":1,"datePublished":"2026-10-14"}],"title":{"ja":"ヒト消化器がん検体を用いた悪性化に関わる薬剤標的因子の探索研究","en":"Study of anti-malignant cancer drug target using human CRC patient samples"},"summary":{"aims":{"ja":"大腸がんや胃がんの死亡率は減少傾向にあるものの、転移を伴うがんの予後は悪い。がん悪性化の機構解明のため、ステージの異なる試料から腫瘍細胞および非腫瘍細胞を単離して培養し、これらの遺伝子解析を行う。遺伝子解析から得られた結果をもとに薬剤スクリーニングを行い、標的遺伝子と薬剤の効果を詳細に検証する。また、これらの結果をもとに免疫不全マウスに腫瘍細胞を移植後、形成された腫瘍に対する薬剤効果を個体モデルで検証する。","en":"Gastrointestinal cancer is the leading cause of cancer-related death, and the 5-year survival rate drops significantly for patients with metastasis. To study the mechanisms of malignant progression, tumor samples are collected from patients at different stages and organoids are established. Using these organoids, anti-cancer drug targets are identified by gene expression analysis, or PDX model analysis, drug screening analysis."},"methods":{"ja":"再発を繰り返す大腸がん患者の肝転移手術摘出検体から樹立した腫瘍オルガノイドを用いて薬剤感受性スクリーニングを行い、有効である薬剤の探索を行った。その結果に基づき、有効であったEGFR阻害薬、KRAS阻害薬、MEK阻害薬のコンビネーション治療実験を行い、シナジー効果を得られるか、RNA-seq解析ならびにExome-seq解析にて検証した。","en":"Whole exome sequencing, RNA sequencing"},"targets":{"ja":"大腸がん 1症例","en":"A colorectal cancer patient who underwent surgical resection of liver metastasis."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing,\nExpression profiling"},"targets":{"ja":"大腸癌：1症例\n（日本人）","en":"colorectal cancer: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"大腸がん1症例の、肝臓転移腫瘍組織から樹立したオルガノイド4検体より抽出したDNAを用いたwhole exome sequencing、ならびに、オルガノイド6検体より抽出したRNAを用いたRNA sequencing解析データをfastqファイルにて提供する。","en":"DNA/RNA extracted from patient-derived organoids from liver metastases of a colorectal cancer patient were used for the whole exome sequencing and RNA sequencing analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"大島 正伸","en":"Masanobu Oshima"},"organization":{"name":{"ja":"金沢大学 ナノ生命科学研究所","en":"Nano Life Science Institute, Kanazawa University"}}}],"researchProjects":[{"name":{"ja":"ヒト消化器がん検体を用いた悪性化に関わる薬剤標的因子の探索研究","en":null},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"外因性リガンド依存的Wntシグナル活性化による胃がん悪性化転移機構の研究","en":"Mechanisms of Gastric cancer Progression and Metastasis Driven by Exogenous Ligand-dependent Wnt Signaling"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["22H00454"]},{"title":{"ja":"変異p53タンパク質蓄積不均一性に起因した腫瘍内局所微小環境に関する研究","en":"Intratumoral Microenvironment Associated with Heterogenous accumulation of Mutant p53"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23K06631"]}],"relatedPublications":[],"datasets":["JGAD001019"],"controlledAccessUsers":[]},{"id":"hum0606","version":1,"url":"https://humandbs.dbcls.jp/research/hum0606/v1","datePublished":"2026-10-14","versions":[{"version":1,"datePublished":"2026-10-14"}],"title":{"ja":"固形腫瘍患者の組織検体を対象とした全ゲノム解析等の分析性能に影響を及ぼす因子に関する基礎検討","en":"A Basic Investigation of Factors Affecting the Analytical Performance of Whole-Genome Sequencing and Related Analyses Using Tissue Specimens from Patients with Solid Tumors"},"summary":{"aims":{"ja":"今後日本で整備される全ゲノム解析等の患者還元の実施体制において、これを担う医療機関で使用していく検体取扱いに関する標準作業手順書の作成のため、複数の検体処理法により準備された組織検体を用いて、全ゲノム解析等により得られる遺伝子変異および発現等のデータの比較検討を行い、分析性能に影響を及ぼす因子（検体品質など）に関する実証データを取得する。","en":"To support the development of standard operating procedures for specimen handling at medical institutions responsible for returning results to patients under the nationwide framework for whole-genome sequencing and related analyses that is expected to be established in Japan, tissue specimens prepared using multiple processing methods will be comparatively evaluated. Genetic alterations, gene expression profiles, and other data obtained through whole-genome sequencing and related analyses will be compared to generate empirical evidence on factors, such as specimen quality, that may affect analytical performance."},"methods":{"ja":"Whole Genome Sequencing、RNA Sequencing","en":"Whole Genome Sequencing, RNA Sequencing"},"targets":{"ja":"【WGS】\n・子宮体がん：1症例\n新鮮凍結：1検体、細胞診：1検体、末梢血：1検体\n・乳がん細胞株由来xenograft：1モデル\n新鮮凍結：1検体、細胞診：1検体、セルペレット：1検体\n【RNA-seq】\n・子宮体がん：1症例\n新鮮凍結：1検体、細胞診：1検体\n・乳がん細胞株由来xenograft：1モデル\n新鮮凍結：1検体、細胞診：1検体\n※末梢血以外の検体は全て腫瘍組織\n※WGSとRNA-seqの子宮体がん1症例は同一。乳がん細胞由来xenograft 1モデルは購入検体より作製、WGSとRNA-seqに同一モデル使用。","en":"WGS:\n- Endometrial cancer, 1 patient: 1 fresh-frozen tumor tissue, 1 cytology specimen, and 1 peripheral blood specimen as a matched normal control.\n- Breast cancer cell line-derived xenograft, 1 model: 1 fresh-frozen tumor tissue, 1 cytology specimen, and 1 cell pellet.\nRNA-seq:\n- Endometrial cancer, 1 patient: 1 fresh-frozen tumor tissue and 1 cytology specimen.\n- Breast cancer cell line-derived xenograft, 1 model: 1 fresh-frozen tumor tissue and 1 cytology specimen."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"子宮体癌：1症例\n（日本人）\n乳癌細胞株由来xenograft：1モデル\n（細胞株）","en":"Endometrial cancer: 1 case\n(Japanese)\nBreast cancer cell line-derived xenograft: 1 model\n(Cell line)"},"typeOfData":{"ja":"NGS\n（WGS、RNA-seq）","en":"NGS\n(WGS, RNA-seq)"}},"releaseNote":{"ja":"子宮体がん1症例および乳がん細胞株由来のxenograftモデル1例の末梢血もしくは腫瘍組織から抽出したDNA/RNAを対象としたwhole-genome sequencing解析データならびにRNA sequencing解析データをfastqファイルにて提供する。","en":"DNAs/RNAs extracted from peripheral blood cells　or tumor tissues obtained from patients with endometrial cancer or breast cancer cell line-derived xenograft were used for the whole-genome sequencing and RNA sequencing analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"畑中 豊","en":"Yutaka Hatanaka"},"organization":{"name":{"ja":"北海道大学病院 先端診断技術開発センター","en":"Center for Development of Advanced Diagnostics, Hokkaido University Hospital"}}}],"researchProjects":[],"grants":[{"title":{"ja":"全ゲノム情報を患者に還元するためのゲノム・臨床情報基盤の研究","en":"Research on genome and clinical information infrastructure for returning whole genome information to patients"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21ck0106696"]}],"relatedPublications":[],"datasets":["JGAD001101","JGAD001102"],"controlledAccessUsers":[]},{"id":"hum0455","version":4,"url":"https://humandbs.dbcls.jp/research/hum0455/v4","datePublished":"2026-10-09","versions":[{"version":1,"datePublished":"2025-08-04"},{"version":2,"datePublished":"2026-02-20"},{"version":3,"datePublished":"2026-04-09"},{"version":4,"datePublished":"2026-10-09"}],"title":{"ja":"肺がんの遺伝子異常、分子標的、薬剤感受性を予測する、組織形態、バイオマーカーの探索 / 肺癌の遺伝子異常とその生物学的意義の解析","en":"Explore genetic abnormalities, molecular targets, predictive of drug sensitivity, histomorphology, and biomarkers in lung cancer / Analysis of genetic abnormalities and their biological significance in lung cancer"},"summary":{"aims":{"ja":"小細胞がんと大細胞型神経内分泌がん（large cell neuroendocrine carcinoma：LCNEC）は高悪性度神経内分泌がん（high-grade neuroendocrine carcinomas：HGNEC）に分類される。HGNECは予後不良で、治療に対して高確率で耐性化する。小細胞がんはASCL1、NEUROD1、POU2F3、YAP1の4つの転写因子の発現量によってサブタイプ分類ができ、それぞれの予後が異なる。LCNECでは、4つの因子が腫瘍内で不均一に分布する傾向がある。この不均一さが治療抵抗性に関与しているという仮説のもと、不均一性を検討するために、全ゲノム解析（whole genome sequencing：WGS）解析や空間トランスクリプトーム解析を実施する。腫瘍組織の形態把握を基盤にして、一細胞レベルでの各因子の発現相関、cell-cell間での各種遺伝子発現の相互関係、免疫応答因子等の微小環境について解析することでHGNECの新たな治療標的の同定や治療抵抗性の解明を目指す。","en":"Small cell carcinoma and large cell neuroendocrine carcinoma (LCNEC) fall under high-grade neuroendocrine carcinomas (HGNEC). HGNEC, characterized by poor prognosis and high treatment resistance, presents subtypes withinSCLC based on ASCL1, NEUROD1, POU2F3, and YAP1 expression levels, each influencing prognosis differently. LCNEC exhibits heterogeneous distribution of these factors, hypothesized to contribute to treatment resistance. Incorporating whole-genome sequencing and spatial transcriptomics, we'll investigate this variability. Leveraging tumor tissue morphology, we'll analyze single-cell factor expression correlations and gene expressions in the microenvironment, aiming to identify new HGNEC therapeutic targets and understand treatment resistance."},"methods":{"ja":"【WGS】Illumina、NanoporeによるWGS\n【Xenium：High-performance in situ gene expression mapping】10xによる高性能 in situ 遺伝子発現マッピング\n【Visium】空間トランスクリプトームVisiumシークエンスデータ（10X Genomics）\n【snRNA-seq】核対象のシングルセルデータ（10XGenomics）\n【STOMICS】空間トランスクリプトームデータ（BGI）\n【PhenoCycler】空間プロテオームデータ（Akoya Biosciences）","en":"Whole-genome sequencing, High-performance in situ gene expression mapping Xenium (10x Genomics), Visium Spatial Gene Expression data (10X Genomics), Single-cell RNA sequencing data derived from nuclei (10X Genomics), STOMICS spatial transcritome data (BGI), PhenoCycler Spatial Proteomics (Akoya Biosciences)"},"targets":{"ja":"筑波大学および自治医科大学附属病院で手術を行われた肺神経内分泌がん10＋10＋13症例","en":"Samples from 10 + 10 + 13 patients with pulmonary neuroendocrine carcinoma operated on at the University of Tsukuba and Jichi Medical University Hospital"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing; Expression profiling;"},"targets":{"ja":"肺神経内分泌癌：10＋10＋13症例\n（日本人）","en":"pulmonary neuroendocrine carcinoma: 10+ 10 + 13 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、Visium Spatial Gene Expression、snRNA-seq、STOmics）\nXenium In Situ Gene Expression\n病理画像\nSpatial Proteomics","en":"NGS (WGS, Visium Spatial Gene Expression, snRNA-seq, STOmics); Xenium In Situ Gene Expression; Histological image; Spatial Proteomics"}},"releaseNote":{"ja":"肺神経内分泌がん13症例のFFPE検体（腫瘍組織）に対して実施したXenium高性能in situ遺伝子発現マッピングデータをaw.tar:ome.tif、parquet、processed.tar:tsv、mtxファイルにて、またSpatial Proteomics データをqptiff、xlsxファイルにて提供する。","en":"FFPE specimen (tumor sample) of 13 patients with pulmonary neuroendocrine carcinoma patient were used for Xenium In Situ Gene Expression Assay and Spatial Proteomics analysis. Csv, h5, html, json, mtx, tiff, parquet, tsv, xenium, zarr, qptiff and xlsx files are provided."},"dataProviders":[{"name":{"ja":"松原 大祐","en":"Daisuke Matsubara"},"organization":{"name":{"ja":"筑波大学 診断病理学","en":"Department of diagnostic pathology, The university of Tsukuba"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ロングリード技術による肺がんゲノム・エピゲノム不均一性と微小環境ストレスの関係性解明に関する研究開発","en":"Study of heterogeneity of genomic and epigenomic aberrations and association with microenvironment in lung cancer tissues"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療加速化研究事業","en":"Project for Promotion of Cancer Research and Therapeutic Evolution, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24ama221522"]}],"relatedPublications":[{"title":"Clinicopathologic, Cellular, and Molecular Analyses of Pulmonary Neuroendocrine Carcinoma With High Expression of Hepatocyte Nuclear Factor 4 Alpha","doi":"https://doi.org/10.1016/j.labinv.2025.104210","datasets":["JGAD000865","JGAD000866"]}],"datasets":["JGAD000865","JGAD000866","JGAD000926","JGAD000974"],"controlledAccessUsers":[]},{"id":"hum0335","version":2,"url":"https://humandbs.dbcls.jp/research/hum0335/v2","datePublished":"2026-10-01","versions":[{"version":1,"datePublished":"2022-09-14"},{"version":2,"datePublished":"2026-10-01"}],"title":{"ja":"遺伝子解析と免疫形質を組み合わせたリンパ増殖性疾患の新たな診断と臨床像の調査研究","en":"Research on new diagnosis and clinical picture of lymphoproliferative diseases by combining genetic analysis and immunological traits"},"summary":{"aims":{"ja":"急性リンパ性白血病、悪性リンパ腫、慢性リンパ性白血病、多発性骨髄腫などを含むリンパ増殖性疾患は、典型例を除きその診断は病理学的にも困難なことは稀ではなく、染色体分析や免疫形質、遺伝子異常を加味した診断が以前から行われている。近年の遺伝子異常に関する網羅的解析や免疫学的研究の進歩から、診断に結びつく新たな異常や特徴が続々と報告されているが、実臨床における診断はそうした変化に追いついていないのが現状である。現在リンパ増殖性疾患の診断は、2017年に発表されたWHO分類に基づいて行われているが、その中にもすでに実臨床の中に取り入れることができていない遺伝子検査や免疫形質の検査が多く盛り込まれている。そこで通常診療で行われていない遺伝子変異を網羅的に解析し、免疫形質の分析を行うことで得られた新たな診断と現状の病理診断における生命予後を含めた臨床像を比較検討する。","en":"Diagnosis of lymphoproliferative diseases, except for typical cases, is often pathologically difficult, and diagnosis has long been based on chromosome analysis, immunological traits, and genetic abnormalities. Recent advances in the comprehensive analysis of genetic abnormalities and immunological studies have led to a number of reports of new abnormalities and features that can lead to diagnosis, but diagnosis in clinical practice has not kept pace with these changes. In this study, we compared the clinical picture, including prognosis, of the current pathological diagnosis with that of a new diagnosis based on comprehensive analysis of genetic mutations and immunological traits that have not yet been incorporated into conventional clinical practice."},"methods":{"ja":"【Target capture】ARID1A、NOTCH2、CXCR4、MYD88、PRDM1、CD274、PDCD1LG2、RAG2、KMT2D、MYBBP1A、TP53、CD79B のコーディング領域をカバーするプライマーを作成し、次世代シーケンサー（NextSeq 500）を使用したターゲットシーケンスを行った。GRCh37/hg19に基づいてアノテーションを行った後、以下の条件に該当する変異を除外した。Read Depth<500、Alt Variant Freq<5%（MYD88 L265Pは<1%）、global freq>1%または1000 Genomes ProjectにおいてEast Asian pop freq>1%、synonymous mutations、inflame mutations、SIFTが\"tolerated\"またはPolyPhenが\"benign\"のmissense mutations\n【whole exome sequencing】Agilent SureSelect Human All Exon V6 を用い、Agilent SureSelect Target Enrichment Systemのプロトコールに従ってライブラリーを作成。NovaSeq 6000（Illumina）を用いてwhole exome sequencing解析を実施した。","en":"[Target capture] We created primers covering the coding regions of ARID1A, NOTCH2, CXCR4, MYD88, PRDM1, CD274, PDCD1LG2, RAG2, KMT2D, MYBBP1A, TP53, and CD79B and performed targeted sequencing using the NextSeq 500 next-generation sequencer. After annotation based on GRCh37/hg19, mutations that met the following criteria were filtered out: Read Depth < 500, Alt Variant Freq < 5% (< 1% on MYD88 L265P), global frequency > 1% or East Asian pop frequency > 1% based on 1000 Genomes Project, synonymous mutations, inflame mutations, and missense mutations scored \"tolerated\" by SIFT or \"benign\" by PolyPhen.\n[Whole exome sequencing] Library was made according to Agilent SureSelect Target Enrichment System protocol."},"targets":{"ja":"【Target capture】原発性マクログロブリン血症（Waldenström macroglobulinemia：WM）10症例およびnon IgM-typeリンパ形質細胞性リンパ腫 （lymphoplasmacytic lymphoma：LPL）10症例の各種検体から抽出したDNA\n【whole exome sequencing】リンパ増殖性疾患の１型（T-LGL（Large Granular Lymphocytic Leukemia）とその形質転換と推察されるが、病理診断が困難なT細胞腫瘍）の骨髄細胞（形質転換した腫瘍）から抽出したDNA","en":"[Target capture] DNAs extracted from specimens from 10 cases of Waldenström macroglobulinemia and 10 cases of non IgM-type lymphoplasmacytic lymphoma (LPL)\n[Whole exome sequencing] DNAs extracted from bone marrow cells (after transformation) of one patient with T cell lymphoproliferative disease (probably diagnosis is a transformation case from T-LGL (Large Granular Lymphocytic Leukemia), though we don't have definitive diagnosis for both indolent disease and aggressive disease of transformation."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"原発性マクログロブリン血症：10症例\nnon IgM-type リンパ形質細胞性リンパ腫：10症例\nリンパ増殖性疾患：1症例\n（日本人）","en":"Waldenström macroglobulinemia: 10 cases\nnon IgM-type lymphoplasmacytic lymphoma: 10 cases\nT cell lymphoproliferative disease: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture、Exome）","en":"NGS\n(Target Capture, Exome)"}},"releaseNote":{"ja":"リンパ増殖性疾患1症例の骨髄細胞から抽出したDNAを用いたwhole exome sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from 1 case of T cell lymphoproliferative disease were used for whole exome sequencing analysis using the NovaSeq 6000 next generation sequencer. Fastq files are provided."},"dataProviders":[{"name":{"ja":"横濱 章彦","en":"Akihiko Yokohama"},"organization":{"name":{"ja":"群馬大学医学部附属病院 輸血部","en":"Division of Blood Transfusion Service, Gunma University"}}}],"researchProjects":[{"name":{"ja":null,"en":null},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"悪性リンパ腫におけるアミノ酸トランスポーターの解析と治療への応用","en":"Amino acid transporter in malignant lymphoma; its analysis and clinical application"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["16K10342"]}],"relatedPublications":[{"title":"Waldenström Macroglobulinemia and Non-IgM-Type Lymphoplasmacytic Lymphoma Are Genetically Similar","doi":"https://doi.org/10.1159/000530100","datasets":["DRA014819"]},{"title":"Felty Syndrome–Associated Clonal Cytotoxic T-Cell Disease With Terminal Aggressive Progression: Shared STAT3 and TET2 Mutations Across a Prolonged Disease Course","doi":"https://doi.org/10.1002/jha2.70406","datasets":["JGAD001060"]}],"datasets":["DRA014819","JGAD001060"],"controlledAccessUsers":[]},{"id":"hum0607","version":1,"url":"https://humandbs.dbcls.jp/research/hum0607/v1","datePublished":"2026-10-01","versions":[{"version":1,"datePublished":"2026-10-01"}],"title":{"ja":"「ALK遺伝子異常を有する希少がんに対するアレクチニブの医師主導治験」に附随するバイオマーカーの探索研究","en":"Exploratory Biomarker Study Associated with the Investigator-Initiated Clinical Trial of Alectinib for Rare Cancers Harboring ALK Alterations"},"summary":{"aims":{"ja":"ALK遺伝子異常を有する希少がんに対するアレクチニブの医師主導治験に登録され、アレクチニブ治療が行われた症例において、治験治療前後に採取された検体（腫瘍組織と末梢血）や末梢血循環腫瘍細胞 (Circulating Tumor Cell：CTC) のオミクス解析等を行い、アレクチニブ治療の臨床効果と関連するバイオマーカーを同定する。","en":"To identify biomarkers associated with the clinical efficacy of alectinib treatment by performing omics analyses of specimens, including tumor tissue and peripheral blood samples collected before and after investigational treatment, as well as circulating tumor cells (CTCs), from patients with rare cancers harboring ALK gene alterations who were enrolled in an investigator-initiated clinical trial of alectinib and received alectinib treatment."},"methods":{"ja":"Target Capture Sequencing解析","en":"Target sequencing"},"targets":{"ja":"アレクチニブの医師主導治験に登録されたALK遺伝子異常を有する希少がん24症例の血漿中cell free DNA 24検体、内19症例のバフィーコートより抽出したDNA 19検体","en":"cfDNA in 24 plasma samples obtained from 24 patients enrolled in an investigator-initiated clinical trial of alectinib for rare cancers harboring ALK alterations, and gDNA extracted from buffy coats from 19 of these patients."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"ALK遺伝子異常を有する希少癌：24症例\n（日本人）","en":"Rare cancers harboring ALK alterations: 24 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target capture）","en":"NGS\n(Target capture)"}},"releaseNote":{"ja":"ALK遺伝子異常を有する希少がん24症例の血漿中cfDNA 24検体およびバフィーコートより抽出したDNA 19検体を用いた737個のがん関連遺伝子のTarget Capture Sequencing解析データをbamファイルにて提供する。","en":"Cell-free DNA in 24 plasma samples from 24 rare cancers harboring ALK alterations and DNA extracted from buffy coat samples from 19 of these patients were used for the target capture sequencing analysis about 737 genes related to cancer. Bam files are provided."},"dataProviders":[{"name":{"ja":"高阪 真路","en":"Shinji Kohsaka"},"organization":{"name":{"ja":"国立がん研究センター 研究所細胞情報学分野","en":"Division of Cellular Signaling, National Cancer Center Research Institute"}}}],"researchProjects":[{"name":{"ja":"TACKLE試験附随研究","en":"TACKLE trial translational research"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"先端技術を用いたクリニカルシークエンスの開発と稼働性・臨床的有用性の検証研究","en":"Development of Clinical Sequencing Using Advanced Technologies and Validation of Its Feasibility and Clinical Utility"},"agency":{"ja":"がんセンター研究開発費","en":"NCC Research Grant"},"grantIds":["2025-A-04"]}],"relatedPublications":[{"title":"Efficacy and Safety of Alectinib in Pediatric and Adult Patients with ALK-Altered Advanced Solid Tumors: a phase II TACKLE Trial (NCCH1712/MK003)","datasets":["JGAD001104"]}],"datasets":["JGAD001104"],"controlledAccessUsers":[]},{"id":"hum0511","version":2,"url":"https://humandbs.dbcls.jp/research/hum0511/v2","datePublished":"2026-09-18","versions":[{"version":1,"datePublished":"2026-07-30"},{"version":2,"datePublished":"2026-09-18"}],"title":{"ja":"百寿者サンプルを用いた老化における分子マーカーの探索と分子基盤の解明","en":"Identification of Molecular Markers and Elucidation of Molecular Mechanisms in Aging Using Centenarian Samples"},"summary":{"aims":{"ja":"百寿者、百寿者の家族、及び対照群について、血液中に含まれるRNA全体および1細胞毎のRNAを解析し、老化に伴って増加・減少する分子マーカー、ならびに百寿者に特異的に存在するRNA分子の同定を行う。加えて、免疫の司令塔であるT細胞が老化によって変化する分子メカニズムを明らかにする。","en":"The purpose of this study is to analyze the total RNA in blood and single-cell RNA from centenarians, their family members, and control groups, with the aim of identifying molecular markers that increase or decrease with aging, as well as RNA molecules specific to centenarians. Additionally, the study seeks to elucidate the molecular mechanisms by which T cells, the central regulators of the immune system, change during aging."},"methods":{"ja":"scRNA-seq解析、16種類の細胞表面蛋白質発現（scCITE-seq）解析、TCRα/β鎖CDR3領域の配列（シングルセルレパトア）解析、bulk RNA-seq解析","en":"scRNA-seq, Expression data of 16 cell surface proteins (scCITE-seq), CDR3 sequences of T-cell receptor alpha and beta chains (scTCR-seq), bulk RNA-seq"},"targets":{"ja":"データセット1：健常者28名（70～90歳代：8名、100歳代：10名、110歳代：10名）のT細胞\nデータセット2：上記のうち6名（70～90歳代：2名、100歳代：2名、110歳代：2名）のT細胞（Phorbol 12-myristate 13-acetate [PMA]とイオノマイシンで6時間刺激）","en":"Dataset 1: T cells from 28 healthy individuals\nDataset 2: T cells from 6 healthy individuals stimulated for 6 hours with Phorbol 12-myristate 13-acetate (PMA) and ionomycin"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"健常者：28名\n（日本人）","en":"28 healthy individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq、scTCR-seq、scCITE-seq、bulk RNA-seq）","en":"NGS\n(scRNA-seq, scTCR-seq, scCITE-seq, bulk RNA-seq)"}},"releaseNote":{"ja":"健常者1名の末梢血T細胞から抽出したRNAを用いたbulk RNA-seqデータをfastqファイル形式で提供する。","en":"RNAs extracted from CD4⁺CD27⁻CD28⁻ T cells and CD4⁺CD45RO⁺CD28⁺ T cells isolated from 1 healthy individual were used for bulk RNA-seq analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"橋本 浩介","en":"Kosuke Hashimoto"},"organization":{"name":{"ja":"大阪大学 蛋白質研究所","en":"Institute for Protein Research, The University of Osaka"}}}],"researchProjects":[],"grants":[{"title":{"ja":"老化後期におけるCD4キラーT細胞の増加プロセスの解明","en":"Elucidation of the Expansion Mechanism of Cytotoxic CD4 T Cells During Late-Stage Aging"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["21K06135"]},{"title":{"ja":"長寿者のT細胞が保有する抗原記憶の解明","en":"Elucidation of Antigenic Memory in T Cells from Long-Lived Individuals"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["24K09423"]}],"relatedPublications":[{"title":"CD4 CTLs in Supercentenarians: Signs of Adaptive Expansion in Healthy Aging","doi":"https://doi.org/10.1016/j.celrep.2026.117728","datasets":["JGAD000957","E-GEAD-1107","E-GEAD-1108"]}],"datasets":["JGAD000957","E-GEAD-1107","E-GEAD-1108"],"controlledAccessUsers":[]},{"id":"hum0567","version":1,"url":"https://humandbs.dbcls.jp/research/hum0567/v1","datePublished":"2026-09-18","versions":[{"version":1,"datePublished":"2026-09-18"}],"title":{"ja":"希少疾患（Fontan術後肝障害を含む）を背景として生じた肝がんの病態解明を目指したマルチオミクス解析","en":"The mutiomics analysis on liver tumor with rare liver diseases, including Fontan associated liver diseases"},"summary":{"aims":{"ja":"肝がんはそのほとんどがウイルス、薬物、代謝性疾患に関連した慢性肝障害を背景として発生する。慢性肝障害を呈するWilson病やヘモクロマトーシスなどの先天性代謝性疾患による肝がん発症例も稀ながら存在する。このような希少疾患を背景とする慢性肝障害の中で、Fontan術後の肝臓合併症（Fontan associated liver disease：FALD）が増加している。そこで、FALD症例をはじめとして、希少疾患を背景とする肝障害から発症する肝がんを対象に、臨床試料を用いた病因病態の解明や予後の向上のために必要な治療法をめざしたマルチオミクス解析をおこなう。","en":"Most liver cancers develop because of long-term liver disease caused by viruses, drugs, or metabolic disorders. The rare diseases, including Wilson's disease and hemochromatosis also develop liver cancer. Fontan-associated liver disease (FALD) is one of rare diseases and is increasing. Therefore, we conducted a multi-omics analysis targeting liver cancer arising from liver damage caused by rare diseases, especially FALD. This aims to elucidate the causes and development of the disease and establish treatments to improve the prognosis of patients."},"methods":{"ja":"Whole-genome sequencing、RNA sequencing","en":"whole-genome sequencing, RNA sequencing"},"targets":{"ja":"稀な肝希少疾患、特にFALDを背景に発症した肝がん","en":"liver cancer caused by rare liver diseases, especially FALD"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing; Expression profiling"},"targets":{"ja":"肝希少疾患を背景に発症した肝癌：13症例\n（日本人）","en":"liver cancer caused by rare liver diseases: 13 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、RNA-seq）","en":"NGS\n(WGS, RNA-seq)"}},"releaseNote":{"ja":"肝希少疾患、特にFontan術後の肝臓合併症（Fontan associated liver disease：FALD）を背景に発症した肝がん13症例の腫瘍組織ならびに非腫瘍肝組織から抽出したDNA/RNAを用いたwhole-genome sequencing解析データならびにRNA sequencing解析データをfastq、vcf、csvファイルにて提供する。","en":"DNAs/RNAs extracted from tumor and non-tumor tissues obtained from patients with liver cancer caused by rare liver diseases, especially Fontan-associated liver disease were used for the whole-genome sequencing and RNA sequencing analyses. Fastq, vcf and csv files are provided."},"dataProviders":[{"name":{"ja":"考藤 達哉","en":"Tatsuya Kanto"},"organization":{"name":{"ja":"国立健康危機管理研究機構 国立国際医療研究所 肝炎・免疫研究センター 肝疾患研究部","en":"Department of Liver Diseases, The Research Center for Hepatitis and Immunology, National Institute of Global Health and Medicine, Japan Institute for Health Security"}}}],"researchProjects":[],"grants":[{"title":{"ja":"FALD（Fontan術後肝臓合併症）の疫学調査・レジストリ拡充と病態解明に基づく診療ガイドライン作成に資する研究","en":"Epidemiological and mechanistic studies of FALD for clinical guideline"},"agency":{"ja":"国立国際医療研究センター 国立国際医療研究開発費","en":"Grant-in-Aid for Research, National Center for Global Health and Medicine"},"grantIds":["22A2001","24A2001"]}],"relatedPublications":[{"title":"Genomic and transcriptomic profiling of hepatocellular carcinoma in patients with Fontan-associated liver disease","doi":"https://doi.org/10.1097/HEP.0000000000001693","datasets":["JGAD001048"]}],"datasets":["JGAD001048"],"controlledAccessUsers":[]},{"id":"hum0600","version":1,"url":"https://humandbs.dbcls.jp/research/hum0600/v1","datePublished":"2026-09-17","versions":[{"version":1,"datePublished":"2026-09-17"}],"title":{"ja":"シングルセル遺伝子発現解析による進行性甲状腺癌の分子機構の解明","en":"Elucidation of the Molecular Mechanisms of Advanced Thyroid Cancer through Single-Cell Gene Expression Analysis"},"summary":{"aims":{"ja":"進行性甲状腺がん（甲状腺未分化がん、甲状腺低分化がん、進行・再発甲状腺分化がん）よりシングルセル遺伝子発現解析を行い、甲状腺がんの悪性化・未分化転化に関与する遺伝子を検索し、またがん微小環境を構築する細胞群の特徴を解析する。","en":"We will perform single-cell gene expression analysis on advanced thyroid cancer (undifferentiated thyroid carcinoma, poorly differentiated thyroid carcinoma, and advanced or recurrent differentiated thyroid carcinoma) to identify genes involved in the malignant transformation and dedifferentiation of thyroid cancer, and to analyze the characteristics of cell populations that constitute the tumor microenvironment."},"methods":{"ja":"scRNA-seq","en":"scRNA-seq"},"targets":{"ja":"甲状腺未分化がん 3症例、甲状腺乳頭がん 3症例","en":"undifferentiated thyroid carcinoma: 3 cases, papillary thyroid carcinoma: 3 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"甲状腺未分化癌：3症例\n甲状腺乳頭癌：3症例\n（日本人）","en":"undifferentiated thyroid carcinoma: 3 cases\npapillary thyroid carcinoma: 3 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq）","en":"NGS\n(scRNA-seq)"}},"releaseNote":{"ja":"甲状腺未分化がん3症例および甲状腺乳頭がん3症例の腫瘍組織より単離した細胞からRNAを抽出し、scRNA-seq解析を実施した。fastqデータならびに発現マトリクスデータ（h5）を提供する。","en":"RNA extracted from a single cell isolated from tumor tissues collected from 3 patients with undifferentiated thyroid carcinoma and 3 patients with papillary thyroid carcinoma were used for scRNA-seq analysis. Fastq data and expression matrix data (h5) are provided."},"dataProviders":[{"name":{"ja":"井口 研子","en":"Akiko Iguchi"},"organization":{"name":{"ja":"筑波大学 医学医療系 乳腺内分泌外科学分野","en":"Department of Breast and Endocrine Surgery, Institute of Medicine, University of Tsukuba"}}}],"researchProjects":[],"grants":[{"title":{"ja":"甲状腺未分化癌に対する新規免疫療法の開発のための研究","en":"Research for the development of novel immunotherapy for anaplastic thyroid carcinoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["JP20K08950"]}],"relatedPublications":[{"title":"Single-cell Transcriptome of Anaplastic Thyroid Cancer Reveals Immunosuppressive Tumor Microenvironment Remodeling","doi":"https://doi.org/10.1002/cam4.72261","datasets":["JGAD001086","E-GEAD-1308"]}],"datasets":["JGAD001086","E-GEAD-1308"],"controlledAccessUsers":[]},{"id":"hum0513","version":1,"url":"https://humandbs.dbcls.jp/research/hum0513/v1","datePublished":"2026-09-08","versions":[{"version":1,"datePublished":"2026-09-08"}],"title":{"ja":"COVID-19ワクチン接種対象者における免疫応答の解析","en":"Immune profiling study of COVID-19 vaccine recipients"},"summary":{"aims":{"ja":"日本で承認済みのCOVID-19ワクチン接種対象者の抗体や免疫細胞を網羅的に解析し、ワクチンの効果や副反応および有害事象と相関する因子を同定すること。","en":"To comprehensively analyze antibodies and immune cells in individuals who received approved COVID-19 vaccines in Japan and to identify factors correlated with vaccine efficacy, adverse reactions, and adverse events."},"methods":{"ja":"scRNA-seq、scTCR-seq","en":"scRNA-seq, scTCR-seq"},"targets":{"ja":"COVID-19ワクチン接種者（健常人）14名","en":"14 Healthy donors who received COVID-19 vaccines"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"COVID-19ワクチン接種者（健常人）：14名\n（日本人）","en":"14 healthy donors who received COVID-19 vaccines\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq、scTCR-seq）","en":"NGS\n(scRNA-seq, scTCR-seq)"}},"releaseNote":{"ja":"COVID-19ワクチン接種者（健常人）14名のワクチン3回目接種から1年後に採血した末梢血単核球（PBMC）を用いたscRNA-seqおよびscTCR-seq解析データをfastq、bam、h5、json、csvファイル形式で提供する。","en":"PBMCs isolated from peripheral blood of 14 healthy donors who received COVID-19 vaccines were used for scRNA-seq and scTCR-seq analyses. Fastq, bam, h5, json and csv files are provided."},"dataProviders":[{"name":{"ja":"高橋 宜聖","en":"Yoshimasa Takahashi"},"organization":{"name":{"ja":"国立感染症研究所 治療薬・ワクチン開発研究センター","en":"Research Center for Drug and Vaccine Development, National Institute of Infectious Diseases"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ウイルス免疫逃避に対抗する液性免疫記憶の進化機序の解明","en":"Evolution of humoral immune memory for resisting viral escape"},"agency":{"ja":"日本医療研究開発機構 革新的先端研究開発支援事業 ユニットタイプ（AMED-CREST）","en":"Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST)"},"grantIds":["JP23gm1810004"]}],"relatedPublications":[{"title":"Antibody durability is influenced by interleukin-2 production by undifferentiated memory T helper cells and extensive B cell clonal expansion","doi":"https://doi.org/10.1016/j.celrep.2025.115934","datasets":["JGAD000937"]}],"datasets":["JGAD000937"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"中岡 慎治","en":"Shinji Nakaoka"},"affiliation":{"ja":"先端生命科学研究院, 北海道大学","en":"Faculty of Advanced Life Science, Hokkaido University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"SARS-CoV-2感染および各種ワクチン接種における免疫応答のシングルセル解析と数理モデリング","en":"Single-cell analysis and mathematical modelling of immune responses to SARS-CoV-2 infection and various vaccines"},"periodStart":"2026-10-15","periodEnd":"2027-03-31","datasets":["JGAD000937"]}]},{"id":"hum0585","version":1,"url":"https://humandbs.dbcls.jp/research/hum0585/v1","datePublished":"2026-08-28","versions":[{"version":1,"datePublished":"2026-08-28"}],"title":{"ja":"ヒト4倍体iPS細胞からの増殖期後心筋細胞の作製","en":"Derivation of human post-mitotic cardiomyocytes from tetraploid iPSCs"},"summary":{"aims":{"ja":"iPS細胞に心筋症に関わる遺伝子変異をゲノム編集により導入後、心筋細胞へと分化誘導した心筋症のモデルを作製し、心筋症の発症機序を探る。複数人から樹立されたiPS細胞を用いることで、遺伝的背景の影響も検討する。","en":"Using genome editing, we introduced mutations in genes associated with cardiomyopathy into iPS cells to model cardiomyopathy. We also tested iPS cells established from multiple individuals."},"methods":{"ja":"RNA-seq解析","en":"RNA-seq"},"targets":{"ja":"米国Gladstone研究所で樹立された、健常者由来iPS細胞（WTC11）、および心筋細胞に分化誘導した細胞、WTC11同士を融合させて樹立した4倍体iPS細胞、および当該4倍体iPS細胞を心筋細胞に分化誘導した細胞","en":"WTC11, an iPS cell line derived from a healthy individual, established at the Gladstone Institutes in its undifferentiated state and after differentiation into cardiomyocytes. The undifferentiated state and after differentiation into cardiomyocytes of tetraploid iPS cells established by fusing WTC11 cells."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"未分化iPS細胞および分化誘導した心筋細胞：12検体\n（細胞株）","en":"undifferentiated iPS cells and differentiated cardiomyocytes: 12 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"健常者由来iPS細胞（WTC11）および分化誘導した心筋細胞、ならびに、 WTC11同士の細胞融合により樹立した4倍体iPS細胞および分化誘導した心筋細胞から抽出したRNAを用いたRNA-seq解析データをfastqファイル形式で提供する。","en":"RNAs extracted from undifferentiated iPS cells and differentiated cardiomyocytes of WTC11 and tetraploid iPS cells established by fusing WTC11 cells were used for the RNA sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"宮岡 佑一郎","en":"Yuichiro Miyaoka"},"organization":{"name":{"ja":"東京都医学総合研究所","en":"Tokyo Metropolitan Institute of Medical Science"}}}],"researchProjects":[{"name":{"ja":"再生医療プロジェクト","en":"Regenerative Medicine Project"},"url":{"ja":[{"url":"https://www.igakuken-regmed.com/","text":"https://www.igakuken-regmed.com/"}],"en":[{"url":"https://www.igakuken-regmed.com/home","text":"https://www.igakuken-regmed.com/home"}]}}],"grants":[{"title":{"ja":"細胞種により異なる倍数性の意義をiPS細胞モデルにより追究する","en":"Elucidating the Significance of Cell Type-Specific Ploidy Using iPSC Models"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["24K02028"]},{"title":{"ja":"マウスの交配のように自在なヒトiPS細胞間の遺伝子交換手法の開発","en":"Flexible gene exchange method between human iPS cell lines like mouse breeding"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["24K21954"]},{"title":{"ja":"心筋細胞の4倍体化を忠実に再現するiPS細胞心筋症モデルの開発","en":"iPSC-Derived Cardiomyocyte Model That Faithfully Recapitulates Cardiomyocyte Tetraploidization"},"agency":{"ja":"循環器病研究振興財団 バイエル循環器病研究助成","en":"Japan Cardiovascular Research Foundation, The Bayer Scholarship for Cardiovascular Research"},"grantIds":null},{"title":{"ja":"生体心臓を真に再現する4倍体iPS細胞由来心筋細胞モデルの確立","en":"Tetraploid iPSC-Derived Cardiomyocyte Model That Faithfully Recapitulates the In Vivo Heart"},"agency":{"ja":"先進医薬研究振興財団 循環医学分野 一般研究助成","en":"SENSHIN Medical Research Foundation"},"grantIds":null},{"title":{"ja":"4倍体化を再現する iPS 細胞由来心筋細胞による再生医療の革新","en":"Transforming Regenerative Medicine Using iPSC-Derived Cardiomyocytes That Recapitulate"},"agency":{"ja":"テルモ生命科学振興財団 再生医療研究助成","en":"TERUMO Life Science Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Derivation of human post-mitotic cardiomyocytes from tetraploid iPSCs","doi":"https://doi.org/10.1038/s42003-026-10763-2","datasets":["DRA029128"]}],"datasets":["DRA029128"],"controlledAccessUsers":[]},{"id":"hum0358","version":4,"url":"https://humandbs.dbcls.jp/research/hum0358/v4","datePublished":"2026-08-20","versions":[{"version":1,"datePublished":"2022-12-20"},{"version":2,"datePublished":"2023-10-19"},{"version":3,"datePublished":"2025-09-24"},{"version":4,"datePublished":"2026-08-20"}],"title":{"ja":"子宮頸部腺癌・扁平上皮癌、腟・外陰癌の発生及び予後決定に関わる遺伝子異常の検索","en":"Research of genetic abnormalities related to the development and prognosis of adenocarcinoma and squamous cell carcinoma of the cervix and vaginal and vulvar cancer"},"summary":{"aims":{"ja":"現在、子宮頸部腺がんのような治療抵抗性の悪性腫瘍の発生及び予後決定に関わる明確な因子は同定されていない。本研究において、子宮頸部腺がんの分子生物学的特徴を、その他の子宮頸がん（扁平上皮がん）や腟・ 外陰部がんの発がんの分子生物学的特徴と対比した上で、子宮頸部腺がんの発生や予後決定に関わる分子マーカーを同定する。子宮頸部扁平上皮がんの中には若年発症かつ予後不良のがんも存在し、また子宮頸部小細胞神経内分泌がん（SCNEC）は進行も早く予後不良な希少腫瘍であり、腺がんとの混合組織型を呈することが多い。腺がんとSCNECの混合組織型を示すHPV18陽性子宮頸がん症例に対して空間トランスクリプトーム解析を実施することで、腺がんからSCNECへの分化経路、TGF-β-EMT経路の活性化、腫瘍-間質相互作用、および免疫微小環境の空間的特性を明らかにする。これらの知見は、子宮頸がんにおける神経内分泌分化の分子機構解明と新規治療標的の同定に貢献することが期待される。","en":"To identify molecular markers involved in the development and prognosis of cervical adenocarcinoma, we would like to elucidate the molecular biological characteristics of cervical adenocarcinoma in relation to the carcinogenesis of other cervical cancers (squamous cell carcinoma), vaginal and vulvar cancers. In addition, some squamous cell carcinomas of the cervix develop at a young age and have a poor prognosis. Small-cell neuroendocrine carcinoma (SCNEC) of the cervix is a rare, aggressive malignancy frequently coexisting with adenocarcinoma. Using Xenium spatial transcriptomics, we profiled over one million cells from an HPV18-positive mixed histology cervical cancer to elucidate the adenocarcinoma-to-SCNEC differentiation trajectory, TGF-β-EMT pathway activation, tumor-stromal interactions, and immune microenvironment organization. These findings aim to clarify neuroendocrine differentiation mechanisms and identify therapeutic targets."},"methods":{"ja":"全エクソン解析、RNAシークエンス解析、シングルセルRNAシークエンス解析、ターゲットバイサルファイトシークエンス解析、空間トランスクリプトーム解析","en":"Whole exome sequencing, RNA-seq, single-cell RNA sequencing, Target bisulfite sequencing, Spatial transcriptome analysis"},"targets":{"ja":"子宮頸がん19＋4＋96症例、NIKS18細胞株\n・全エクソンシークエンス：子宮頸がん1症例由来の腫瘍組織・腫瘍組織由来オルガノイド・末梢血各1検体、4症例由来の腫瘍組織（8検体）・末梢血（2検体）・腫瘍近傍の正常組織（2検体）、96症例由来の腫瘍組織（96検体）\n・RNA-seq：子宮頸がん1症例由来の腫瘍組織・腫瘍由来オルガノイドの2検体、13症例由来の腫瘍組織（13検体）、5症例由来の同一腫瘍内複数検体（77検体）、3症例由来の正常子宮頸部由来オルガノイド（3検体）、1症例由来の正常子宮頸部マイクロダイセクションで取得した4検体、NIKS18細胞株に対してsiRNA knockdownを行ったサンプル5検体\n・single-cell RNA-seq：子宮頸がん1症例由来の正常子宮頸部由来オルガノイド\n・ターゲットバイサルファイトシークエンス：子宮頸がん96症例由来の腫瘍組織\n・空間トランスクリプトーム解析：SCNECと腺がんとの混合組織型を呈するHPV18陽性子宮頸がん1症例の腫瘍組織","en":"cervical cancer total of 19 + 4 + 96 cases, NIKS18 cell line\n[Whole exome sequencing] 1 case: 3 samples of tumor/tumor-derived organoids/peripheral blood cell, 4 cases: 8 tumor samples, 2 peripheral blood samples, 2 normal areas near the tumors, 96 cases: 96 tumor samples\n[RNA-seq] 1 case: 2 samples of tumor/tumor-derived organoids, 13 cases: 13 tumor samples, 5 cases: multiple sampling from within the same tumor for a total of 77 samples, 3 cases: 3 samples from normal cervical tissue-derived organoids, 1 case: 4 samples from normal cervical tissue, siRNA-mediated knockdown samples of NIKS18 cell line (siNPM3: 2 samples, siNC: 3 samples)\n[single-cell RNA-seq] 50 cells of normal cervical tissue-derived organoids of one cervical cancer\n[Target bisulfite-seq] 96 tumor samples of 96 cervical cancer\n[Xenium In Situ Gene Expression] One tumor sample of HPV18-positive cervical cancer exhibiting a mixed histology of SCNEC and adenocarcinoma"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\nメチル化","en":"Sequencing, Expression profiling, Methylation profiling"},"targets":{"ja":"子宮頸癌：19＋4＋96症例\n（日本人）\nNIKS18細胞株：5検体\n（細胞株）","en":"cervical cancer: 19 + 4 + 96 cases\n(Japanese)\nNIKS18 cell line: 5 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、scRNA-seq、Target bisulfite-seq）\nXenium In Situ Gene Expression","en":"NGS (Exome, RNA-seq, scRNA-seq, Target bisulfite-seq); Xenium In Situ Gene Expression"}},"releaseNote":{"ja":"子宮頸部小細胞神経内分泌がん（SCNEC）と腺がんとの混合組織型を呈するHPV18陽性子宮頸がん1症例の腫瘍組織を用いたXenium in situ空間トランスクリプトーム解析データをtif、h5、parquetファイル形式で提供する。","en":"Tumor tissue from a patient with HPV18-positive cervical cancer exhibiting a mixed histology of small cell neuroendocrine carcinoma (SCNEC) and adenocarcinoma was used for the Xenium in situ spatial transcriptome analysis. Tif, H5 and parquet files are provided."},"dataProviders":[{"name":{"ja":"曾根 献文","en":"Kenbun Sone"},"organization":{"name":{"ja":"東京大学医学部附属病院 女性診療科・産科","en":"Department of Obstetrics and Gynecology, The University of Tokyo Hospital"}}}],"researchProjects":[],"grants":[{"title":{"ja":"新規培養技術を用いた、扁平腺接合部細胞における高悪性度HPV18型の潜伏持続感染および発癌機構の解明","en":"Study of HPV-18 persistent infection and carcinogenesis in the squamocolumnar junction cells using novel culture technologies"},"agency":{"ja":"日本医療研究開発機構（AMED） 新興・再興感染症研究基盤創生事業","en":"Japan Program for Infectious Diseases Research and Infrastructure, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22wm0325014"]},{"title":{"ja":"創薬等支援のための1細胞・微小生体組織のトランスクリプトーム解析","en":"Transcriptome analysis of single cell and micro tissue sections for supporting of drug discovery"},"agency":{"ja":"日本医療研究開発機構（AMED） 創薬等ライフサイエンス研究支援基盤事業 創薬等先端技術支援基盤プラットフォーム（BINDS）","en":"Basis for Supporting Innovative Drug Discovery and Life Science Research (BINDS), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21am0101104"]},{"title":{"ja":"単一細胞解析技術の統合によるHPV18型幹細胞発癌機構の解明","en":"Elucidation of stem cell carcinogenesis mechanism of HPV18-associated cervical cancer by integration of single-cell analysis technologies Japan Agency for Medical Research and Development"},"agency":{"ja":"日本医療研究開発機構（AMED） 新興・再興感染症研究基盤創生事業","en":"Japan Program for Infectious Diseases Research and Infrastructure, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24wm0325057"]},{"title":{"ja":"子宮頸癌の起源細胞の同定と、発癌・分化調整機構の解明","en":"Identification of the cell of origin of uterine cervical cancer and elucidation of the regulatory mechanism for carcinogenesis and differentiation"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["22K16853"]},{"title":{"ja":"1細胞/微小組織マルチオミックスのオールインワン解析による生命科学研究の支援","en":"Support of life science studies by all-in-one single cell/micro tissue multi-omics analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 創薬等ライフサイエンス研究支援基盤事業 創薬等先端技術支援基盤プラットフォーム（BINDS）","en":"Basis for Supporting Innovative Drug Discovery and Life Science Research (BINDS), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ama121055"]}],"relatedPublications":[{"title":"Cells with stem-like properties are associated with the development of HPV18-positive cervical cancer","doi":"https://doi.org/10.1111/cas.15664","datasets":["JGAD000708"]},{"title":"Application of organoid culture from HPV18-positive small cell carcinoma of the uterine cervix for precision medicine","doi":"https://doi.org/10.1002/cam4.5588","datasets":["JGAD000713"]},{"title":"TGF-β drives adenocarcinoma-to-SCNEC cell differentiation with periostin-producing CAF activation in cervical cancer","doi":null,"datasets":["JGAD001062"]}],"datasets":["JGAD000708","JGAD000713","JGAD000966","JGAD000770","JGAD000967","JGAD001062"],"controlledAccessUsers":[]},{"id":"hum0343","version":5,"url":"https://humandbs.dbcls.jp/research/hum0343/v5","datePublished":"2026-08-13","versions":[{"version":1,"datePublished":"2022-05-26"},{"version":2,"datePublished":"2022-06-14"},{"version":3,"datePublished":"2024-06-21"},{"version":4,"datePublished":"2024-10-02"},{"version":5,"datePublished":"2026-08-13"}],"title":{"ja":"新型コロナウイルス感染症の遺伝学的知見に基づいたCOVID19ワクチンの開発と評価系の構築","en":"Development of COVID19 vaccine and evaluation system based on genetics of COVID-19"},"summary":{"aims":{"ja":"新型コロナウイルス感染症患者、無症候性感染者及び新型コロナウイルス感染症が疑われる患者の全ゲノムシーケンス、RNAシーケンス、超高精度HLA解析などを通して、重症化予測法システムの構築を行うことを目的とする。匿名化データを使用してCOVID-19の重症度予測などを数理モデルで解析するとともに、ウイルスと自己免疫性疾患およびCOVID-19の関連を解明する。","en":"To construct a prediction system for severe disease through whole genome sequencing, RNA sequencing, and ultra-high-precision HLA analysis of patients with COVID-19, asymptomatic infected patients, and patients suspected of having novel coronavirus infection. In addition, we will use anonymized data to analyze the prediction of severity of COVID-19 using mathematical models. To elucidate the association between viruses and autoimmune diseases and COVID-19."},"methods":{"ja":"ゲノムワイド関連解析、RNA-seq、タンパク質発現解析、eQTL/sQTL/pQTL解析、全ゲノムシーケンス","en":"Genome-wide association study (GWAS), RNA-seq, Protein expression analysis, eQTL/sQTL/pQTL study, whole genome sequencing"},"targets":{"ja":"ゲノムワイド関連解析：日本人5,682名 （COVID-19感染症患者：2,393名、対照者：3,289名）、日本人58,983名 （重症COVID-19感染症患者：3,087名、対照者：55,896名）\nRNA-seq：日本人COVID-19感染症患者1,019名\nタンパク質発現量解析：日本人COVID-19感染症患者1,384名\n全ゲノムシーケンス：日本人COVID-19感染症患者1,164名","en":"GWAS: 5,682 Japanese individuals (2,393 COVID-19 infected patients and 3,289 controls), 58,983 Japanese individuals (3,087 severe COVID-19 infected patients and 55,896 controls)\nRNA-seq: Maximum 1,019 COVID-19 infected patients\nProtein expression: 1,384 COVID-19 infected patients\nWhole genome sequencing: 1,164 COVID-19 infected patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\nゲノムワイド関連\n発現","en":"Sequencing, Genome-wide association, Expression profiling"},"targets":{"ja":"COVID-19感染者：2,393＋2,148症例\n対照者：3,289＋53,269名\n（日本人）","en":"COVID-19: 2,393 + 2,148 cases\nHealthy controls: 3,289 + 53,269 individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）\nSNP-chip\nタンパク質発現量\neQTL/sQTL/pQTL\neHHV-6の有無、アネロウイルス量","en":"NGS\n(RNA-seq)\nSNP-chip\nProtein expression\neQTL/sQTL/pQTL\nPresence or absence of endogenous herpesvirus 6, anellovirus load"}},"releaseNote":{"ja":"重症COVID-19感染者3,087名および対照者55,896名の末梢血から抽出したDNAを用いたSNPアレイデータによるGenotypingデータのGWAS統計データをテキスト形式にて提供する。","en":"DNAs extracted from peripheral blood cells of 3,087 severe COVID-19 infected patients and 55,896 controls were genotyped by using of Illumina Infinium Asian Screening Array and genome-wide association studies were performed (txt files)."},"dataProviders":[{"name":{"ja":"福永 興壱","en":"Koichi Fukunaga"},"organization":{"name":{"ja":"慶應義塾大学医学部 呼吸器内科","en":"Department of Medicine, Pulmonary Division, Keio University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"新型コロナウイルス感染症の遺伝学的知見に基づいた分子ニードルCOVID-19粘膜免疫ワクチンの開発","en":"Development of genetically-designed COVID19 mucosal immune vaccine with molecular needle platform"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED）創薬支援推進事業","en":"Project Promoting Support for Drug Discovery, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20nk0101612"]},{"title":{"ja":"新型コロナウイルス感染症の重症化阻止を目指した医薬品・次世代型ワクチン開発に必要な遺伝学・免疫学・代謝学的基盤研究の推進","en":"Promotion of genetic, immunological, and metabolic research necessary for the development of next-generation vaccines and drugs aiming to prevent the aggravation of coronavirus disease 2019"},"agency":{"ja":"新興・再興感染症に対する革新的医薬品等開発推進研究事業","en":"Research Program on Emerging and Re-emerging Infectious Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20fk0108415"]},{"title":{"ja":"新型コロナ変異ウイルスに対する遺伝学的、免疫学的、代謝学的病態解明および治療戦略の策定","en":"Elucidation of pathogenesis and development of therapeutic strategies using genetic, immunological, and metabolic studies against SARS-CoV-2 variants"},"agency":{"ja":"新興・再興感染症に対する革新的医薬品等開発推進研究事業","en":"Research Program on Emerging and Re-emerging Infectious Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20fk0108452"]},{"title":{"ja":"新型コロナウイルス感染症後遺症の病態生理の多分野融合による解明","en":"Elucidation of the pathophysiology of the sequelae of coronavirus disease 2019 using a multidisciplinary approach"},"agency":{"ja":"新興・再興感染症研究基盤創生事業（多分野融合研究領域）","en":"Japan Program for Infectious Diseases Research and Infrastructure, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21wm0325031"]},{"title":{"ja":"先端ゲノム解析と人工知能によるコロナ制圧研究","en":"Research on Conquering Coronavirus Disease by Advanced Genomic Analysis and Artificial Intelligence"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST） 戦略的創造研究推進事業CREST","en":"Core Research and Evolutional Science and Technology (CREST), Japan Science and Technology Agency (JST)"},"grantIds":["JPMJCR20H2"]},{"title":{"ja":"免疫オミクス情報の横断的統合による関節リウマチのゲノム個別化医療の実現","en":"Genomic prediction medicine of rheumatoid arthritis based on comprehensive immune-omics resources"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） 免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ek0410075"]},{"title":{"ja":"横断的オミクス解析と全ゲノムシークエンスを駆使した疾患病態と組織特異性の解明","en":"Elucidation of tissue-specificity of disease biology using trans-layer omics analysis and whole-genome sequencing"},"agency":{"ja":"科学研究費補助金 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["19H01021"]},{"title":{"ja":"大規模集団ゲノムデータを利用した遺伝子発現制御文法の機械学習による、VUS 病原性の網羅的評価と実験検証","en":"Systematic evaluation of variant of uncertain significance (VUS) pathogenicity through population genomics data analysis and massively parallel reporter assay"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） ゲノム創薬基盤推進研究事業","en":"Program for Promoting Platform of Genomics based Drug Discovery, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22kk0305022"]},{"title":{"ja":"ゲノム制御機構を解明する、解釈可能な汎用予測モデルの構築","en":"Towards a generalized and interpretable model for comprehensive understanding of human gene regulatory mechanisms"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST） 創発的研究支援事業","en":"Fusion Oriented REsearch for disruptive Science and Technology (FOREST) program, Japan Science and Technology Agency (JST)"},"grantIds":["JPMJFR225Y"]},{"title":{"ja":"パンデミックに対してレジリエントな研究体制構築のための基盤研究","en":"Fundamental research to build an academic system resilient to pandemics"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST） 戦略的創造研究推進事業さきがけ","en":"Promoting Individual Research to Nurture the Seeds of Future Innovation and Organizing Unique, Innovative Network (PRESTO), Japan Science and Technology Agency (JST)"},"grantIds":["JPMJPR21R7"]}],"relatedPublications":[{"title":"DOCK2 is involved in the host genetics and biology of severe COVID-19","doi":"https://doi.org/10.1038/s41586-022-05163-5","datasets":["NHA000169","NHA000168"]},{"title":"The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force","doi":"https://doi.org/10.1038/s41467-022-32276-2","datasets":["NHA000172"]},{"title":"Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal their distinct regulation patterns and disease relevance","doi":"https://doi.org/10.1038/s41588-024-01896-3","datasets":["E-GEAD-759","NHA000193"]},{"title":"Blood DNA virome associates with autoimmune diseases and COVID-19.","doi":"https://doi.org/10.1038/s41588-024-02022-z","datasets":["JGAD000874"]},{"title":"MUC19 is a genetic factor for severe COVID-19 in individuals of East Asian ancestry","doi":null,"datasets":["NHA000210"]}],"datasets":["NHA000169","NHA000168","NHA000172","E-GEAD-759","NHA000193","JGAD000874","NHA000210"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000874"]}]},{"id":"hum0405","version":4,"url":"https://humandbs.dbcls.jp/research/hum0405/v4","datePublished":"2026-08-05","versions":[{"version":1,"datePublished":"2023-12-25"},{"version":2,"datePublished":"2025-07-16"},{"version":3,"datePublished":"2025-12-02"},{"version":4,"datePublished":"2026-08-05"}],"title":{"ja":"小児・成人悪性腫瘍がん幹細胞の同定に関する研究","en":"Research on the identification of cancer stem cells for peidatric and adult malignancies"},"summary":{"aims":{"ja":"近年、白血病・脳腫瘍・乳がん等多くのがんにおいて「がん幹細胞」が存在することが報告され、がんの再発の主原因であることが多くの報告で明らかにされてきているが、多くの小児・成人悪性腫瘍ではがん幹細胞を明確に同定し、その生物学的特性を検討した報告は存在しない。本研究では小児・成人悪性腫瘍の患者検体を使用して、がん幹細胞を同定が可能であるかを検証することを目的とする。希少な小児がんに対し、体細胞・胚細胞変異を包括したゲノミクスや、トランスクリプトミクス、プロテオミクス、メタボロミクス などを統合したオミクス解析を展開することで、がん幹細胞や前駆細胞レベルでの病態、個体間差異を含めた腫瘍を取り巻く環境などの対象疾患の生物学的特性の理解を深める。得られた知見と患者臨床情報を元に、マウスモデルやin vitroモデルを用いて新規治療薬や細胞療法など新規治療戦略による非臨床薬理試験を行い、治療効果を検討する。","en":"In recent years, \"cancer stem cells\" have been reported to exist in many cancers. Many reports have shown that they are the main cause of cancer recurrence. The aim of this study is to test whether cancer stem cells can be identified using patient samples. We will perform omics analysis of rare pediatric cancers by integrating genomics, transcriptomics, proteomics and metabolomics, including somatic and germline mutations, to deepen our understanding of the biological characteristics of the target disease. Based on the knowledge gained and clinical information from patients, we will conduct preclinical pharmacological studies using mouse models and in vitro models to investigate the therapeutic effects of novel therapeutic agents and novel therapeutic strategies such as cellular therapies."},"methods":{"ja":"WES、RNA-seq、small RNA-seq、WGS、Amplicon-seq、メチル化アレイ、scRNA-seq/ADT-seq/TCR-seq、CUT&RUN-seq","en":"WES, RNA-seq, small RNA-seq, WGS, Amplicon-seq, Methylation array, scRNA-seq/ADT-seq/TCR-seq, CUT&RUN-seq"},"targets":{"ja":"小児B前駆細胞性急性リンパ性白血病 69症例\n小児急性骨髄性白血病 9症例（内、5症例は初発時は小児B前駆細胞性急性リンパ性白血病、再発時に急性骨髄性白血病を呈した症例）\nCD19 CAR-T療法（tisagenlecleucel）を受けたB細胞性前リンパ球性白血病（B-cell precursor ALL：BCP-ALL）16症例\n慢性活動性ウイルス感染症（chronic active EBV infection：CAEBV） 65症例\n伝染性単核球症（infectious mononucleosis：IM） 6症例\n健常人 4名","en":"Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases\nPediatric acute myeloid leukemia: 9 cases\nB-cell precursor acute lymphocytic leukemia patients who received tisagenlecleucel: 16 cases\nchronic active EBV infection (CAEBV): 65 cases\ninfectious mononucleosis (IM): 6 cases\n4 healthy volunteers"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現\n配列決定\nメチル化\nヒストン修飾","en":"Expression profiling\nSequencing\nMethylation profiling\nHistone modification"},"targets":{"ja":"小児B前駆細胞性急性リンパ性白血病：69症例\n小児急性骨髄性白血病：9症例\nB細胞性前リンパ球性白血病：16症例\n慢性活動性EBウイルス感染症：65症例\n伝染性単核球症：6症例\n健常人：4名\n（日本人）","en":"Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases\nPediatric acute myeloid leukemia: 9 cases\nB-cell precursor acute lymphoblastic leukemia: 16 cases\nchronic active EBV infection: 65 cases\ninfectious mononucleosis: 6 cases\n4 healthy individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、small RNA-seq、WGS、Amplicon-seq、scRNA-seq/ADT-seq/TCR-seq、CUT&RUN-seq）\nメチル化アレイ","en":"NGS\n(Exome, RNA-seq, small RNA-seq, WGS, Amplicon-seq, scRNA-seq/ADT-seq/TCR-seq, CUT&RUN-seq)\nMethylation array"}},"releaseNote":{"ja":"慢性活動性EBV感染症（CAEBV）65症例のEBV感染細胞もしくは細胞株、非感染細胞、末梢血単核球（PBMC）、ならびに、伝染性単核球症（IM）6症例、健常人4名のNK細胞またはPBMCより抽出したDNA/RNAを用いたWGS、WES、RNA-seq、Amplicon-seq、メチル化アレイ、scRNA-seq/ADT-seq/TCR-seq、およびCUT&RUN-seq解析データをbam、bai、fastq、IDATファイルにて提供する。","en":"DNAs/RNAs were extracted from EBV-infected cells, cell-lines, uninfected cells and PBMCs from 65 patiants with chronic active EBV infection (CAEBV), NK cells and PBMCs from 6 patiants with infectious mononucleosis (IM) and 4 healthy individuals. WGS, WES, Amplicon-seq, RNA-seq, Methylation array, scRNA-seq/ADT-seq/TCR-seq and CUT&RUN-seq analyses were performed. Bam, bai, IDAT and fastq files are provided."},"dataProviders":[{"name":{"ja":"滝田 順子","en":"Junko Takita"},"organization":{"name":{"ja":"京都大学 発達小児科学","en":"Department of Pediatrics, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"難治性小児がんの時空的多様性の解明と新規創薬の開発","en":"Study of spatiotemporal variety of intractable pediatric cancers and development of new drugs"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療加速化研究事業（P-PROMOTE）","en":"Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ama221505"]},{"title":{"ja":"マルチオミックス情報を基盤とした難治性小児がんに対する新規克服法の開発","en":"Development of novel therapeutic strategies for intractable pediatric cancers based on the multi-omics information"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["17H04224"]},{"title":{"ja":"小児がんにおける遺伝学的高発がん感受性の機序とクローン進化の統合的解析","en":"Integrated analysis of mechanisms of genetic susceptibility to cancer and clonal evolution in pediatric cancer"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["20H00528"]},{"title":{"ja":"小児固形腫瘍の克服に資するドライバー遺伝子を標的としない新規治療法の開発","en":"Development of novel therapeutic strategies for pediatric solid tumor based on non-driver gene targeted approaches"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["21K19405"]},{"title":{"ja":"神経発達症群と腫瘍形成におけるクロストークの解明と新規創薬の開発","en":"Elucidation of crosstalk between neurodevelopmental disorders and tumorigenesis and development of novel therapeutic drugs"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["23K18264"]},{"title":{"ja":"小児期から若年成人期に発症する悪性腫瘍の克服に資する時空的多様性の解明","en":"Clarification of spatio-temporal diversity for overcoming cancers that develop from childhood to young adulthood"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["24H00628"]}],"relatedPublications":[{"title":"RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia","doi":"https://doi.org/10.1182/bloodadvances.2023011583","datasets":["JGAD000752"]},{"title":"Multi-omics analysis identifies an M-MDSC-like immunosuppressive phenotype in lineage-switched AML with KMT2A rearrangement","doi":"https://doi.org/10.1038/s41467-025-63271-y","datasets":["JGAD000761"]},{"title":"CAR-T cells with the CD38-CD73-Tim-3-HLA-DR+ phenotype predict the efficacy of tisagenlecleucel as a treatment for B cell precursor ALL","doi":"https://doi.org/10.1016/j.xcrm.2025.102576","datasets":["JGAD000901"]},{"title":"Multiomics analysis reveals the genetic and epigenetic features of high-risk NK cell-type chronic active EBV infection","doi":"https://doi.org/10.1182/blood.2024026805","datasets":["JGAD000870"]}],"datasets":["JGAD000752","JGAD000761","JGAD000901","JGAD000870"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000752","JGAD000761","JGAD000901"]}]},{"id":"hum0444","version":2,"url":"https://humandbs.dbcls.jp/research/hum0444/v2","datePublished":"2026-08-04","versions":[{"version":1,"datePublished":"2024-04-03"},{"version":2,"datePublished":"2026-08-04"}],"title":{"ja":"遺伝学的変化を要因とする皮膚疾患のマルチオミックス解析による病態解明の研究","en":"Research to elucidate pathological conditions of skin diseases caused by genetic alterations by multi-omics analysis"},"summary":{"aims":{"ja":"皮膚に何らかの症状を現す疾患（単一遺伝子病、遺伝的背景・素因が発症に関与する可能性があると科学的に考えられる疾患、後天性に生じた遺伝学的変化が発症に関与する可能性があると科学的に考えられる疾患、遺伝学的素因が類推されるが既知の疾患に合致しない未診断疾患）を発症した患者における、先天的もしくは病変部組織において後天的に生じた遺伝学的変化や発現変化について、様々なマルチオミックス解析技術（全エクソーム解析、全ゲノム解析、ターゲットエクソーム解析、トランスクリプトーム解析、SNP-chip解析、EPICアレイ解析、ATACシーケンシング解析、シングルセル解析、質量分析解析・プロテオミクス解析、リピドミクス解析、エクソソーム解析など）を用いて網羅的に探索することで、発症要因となった遺伝学的変化を同定すること。","en":"In patients diagnosed with a single-gene disease, those considered to have a genetic background or predisposition influencing their disease's pathogenesis, those with diseases believed to involve acquired genetic changes contributing to their development, or those with an undiagnosed disease resembling a genetic predisposition but not matching any known diseases, we analyze both congenital and acquired genetic changes, as well as genetic or expression changes in the diseased tissue, using various multi-omics techniques (whole-exome, whole-genome, targeted-exome, transcriptome, ATAC sequencing, SNP-chip, EPIC array, etc.). The primary objective is to identify the genetic changes contributing to the pathogenesis."},"methods":{"ja":"WGS、WES、ロングリードWGS、Amplicon-seq、RNA-seq、SNP-chip、メチル化アレイ","en":"WGS, WES, long-read WGS, Amplicon-seq, RNA-seq, SNP-chip and methylation array analysis"},"targets":{"ja":"汗孔角化症 8症例、nevus spilus-type congenital melanocytic nevus（NS-CMN） 3症例","en":"8 porokeratosis patients, 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\nメチル化","en":"Sequencing\nExpression profiling\nMethylation profiling"},"targets":{"ja":"汗孔角化症：8症例\nNevus spilus-type congenital melanocytic nevus（NS-CMN）：3症例\n（日本人）","en":"8 porokeratosis patients\n3 Nevus spilus-type congenital melanocytic nevus (NS-CMN) patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、Exome、ロングリードWGS、Amplicon-seq、RNA-seq）\nSNPアレイ\nメチル化アレイ","en":"NGS\n(WGS, Exome, Long-read WGS, Amplicon-seq, RNA-seq)\nSNP array\nMethylation array"}},"releaseNote":{"ja":"Nevus spilus-type congenital melanocytic nevus（NS-CMN）3症例の皮膚、培養細胞および末梢血より抽出したDNAを用いたWESおよびSNP-chip解析データをfastqおよびidatファイルにて提供する。","en":"DNAs were extracted from skin, cultured cells, and peripheral blood cells from 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients. WES and SNP-chip analyses were performed. Fastq and idat files are provided."},"dataProviders":[{"name":{"ja":"久保 亮治","en":"Akiharu Kubo"},"organization":{"name":{"ja":"神戸大学大学院医学研究科 内科系講座皮膚科学教室","en":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"汗孔角化症の病態解明を通じた細胞競合/クローン拡大機構の理解と新規治療法開発","en":"Understanding the mechanism of cell competition/clonal expansion and developing new therapies by elucidating the pathomechanism of porokeratosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["23H02931"]},{"title":{"ja":"汗孔角化症の病態メカニズム解明を通じたヒト細胞競合の理解","en":"Understanding cell competition in humans by elucidating the pathomechanism of porokeratosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03704"]},{"title":{"ja":"精緻エピゲノム解析技術開発とIRUD未解明症例への応用","en":"Diagnosis of rare diseases and elucidation of molecular pathological states by using epigenetic information"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ek0109489"]},{"title":{"ja":"構造異常・スプライシング異常・メチル化異常の革新的検出系による未診断疾患患者の診断率向上とN-of-1創薬への導出","en":"Innovative detection systems for structural, splicing, and methylation aberrations to improve the diagnostic rate of undiagnosed patients: early diagnosis and preparation for N-of-1 drug development"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ek0109672"]},{"title":{"ja":"若年期体細胞モザイクの発生要因・拡大原理の解明とその制御による新規治療基盤の創出","en":"Elucidating the developing factors and expanding mechanisms of juvenile somatic mosaicism to establish novel therapeutic strategies"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ソロタイプ（PRIME）","en":"Precursory Research for Innovative Medical care (PRIME), Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21gm6310026"]},{"title":{"ja":"ヒト細胞競合モザイク疾患の疾患概念確立と病態解明","en":"Establishment of a novel disease concept for cell competitive mosaicism in human"},"agency":{"ja":"科学研究費助成事業 学術変革領域研究（A）","en":"KAKENHI Grant-in-Aid for Transformative Research Areas (A)"},"grantIds":["24H01406"]},{"title":{"ja":"体細胞セカンドヒットによる汗孔角化症の発症メカニズム解明","en":"Elucidation of the Pathogenic Mechanism of Porokeratosis Caused by Somatic Second-Hit Mutations"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["25K19541"]},{"title":{"ja":"未診断疾患イニシアチブ(Initiative on Rare and Undiagnosed Diseases(IRUD)):希少未診断疾患に対する診断プログラムの開発に関する研究","en":"Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24ek0109760"]},{"title":{"ja":"エピゲノム変異と細胞競合に着目したクローン性増殖モザイク疾患の病態解明","en":"Decoding Clonal Expansion in Mosaic Disorders: Epigenomic Alterations and Cell Competition"},"agency":{"ja":"公益財団法人 武田科学振興財団 生命科学研究助成","en":"Takeda Science Foundation"},"grantIds":null},{"title":{"ja":"ヒト細胞競合モザイク疾患の確立とその病態機構の解明","en":"Human Cell-Competition Mosaic Disorders: Establishing a New Disease Paradigm and Deciphering Pathogenesis"},"agency":{"ja":"公益財団法人 上原記念生命科学財団 特定研究助成金","en":"The Uehara Memorial Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis","doi":"https://doi.org/10.1016/j.ajhg.2024.03.017","datasets":["JGAD000817"]},{"title":"Postzygotic NRAS Variants and Subsequent Copy-Neutral Loss of Heterozygosity Underlie Speckled Pattern Formation in Nevus Spilus-Type Congenital Melanocytic Nevus","doi":"https://doi.org/10.1016/j.jid.2026.08.007","datasets":["JGAD001073"]}],"datasets":["JGAD000817","JGAD001073"],"controlledAccessUsers":[]},{"id":"hum0197","version":31,"url":"https://humandbs.dbcls.jp/research/hum0197/v31","datePublished":"2026-07-31","versions":[{"version":1,"datePublished":"2019-11-15"},{"version":2,"datePublished":"2020-11-27"},{"version":3,"datePublished":"2021-03-22"},{"version":4,"datePublished":"2021-12-10"},{"version":5,"datePublished":"2021-12-21"},{"version":6,"datePublished":"2022-02-08"},{"version":7,"datePublished":"2022-05-23"},{"version":8,"datePublished":"2022-06-03"},{"version":9,"datePublished":"2022-06-10"},{"version":10,"datePublished":"2022-06-16"},{"version":11,"datePublished":"2022-07-21"},{"version":12,"datePublished":"2022-12-01"},{"version":13,"datePublished":"2023-02-14"},{"version":14,"datePublished":"2023-02-16"},{"version":15,"datePublished":"2023-03-29"},{"version":16,"datePublished":"2023-06-06"},{"version":17,"datePublished":"2023-06-27"},{"version":18,"datePublished":"2023-10-02"},{"version":19,"datePublished":"2024-05-29"},{"version":20,"datePublished":"2024-05-30"},{"version":21,"datePublished":"2024-10-28"},{"version":22,"datePublished":"2024-11-11"},{"version":23,"datePublished":"2024-12-18"},{"version":24,"datePublished":"2025-05-07"},{"version":25,"datePublished":"2025-07-25"},{"version":26,"datePublished":"2025-10-27"},{"version":27,"datePublished":"2025-12-02"},{"version":28,"datePublished":"2025-12-12"},{"version":29,"datePublished":"2026-01-22"},{"version":30,"datePublished":"2026-03-10"},{"version":31,"datePublished":"2026-07-31"}],"title":{"ja":"多層的オミクス解析による疾患病態の解明","en":"Elucidation of disease state by multi-layered omics analysis"},"summary":{"aims":{"ja":"多層的オミクス解析による疾患病態の解明、日本人集団におけるGWASおよび複数集団におけるGWASメタ解析、COVID-19重症化メカニズムの解明、2型糖尿病ポリジェニック予測精度の向上、不育症の遺伝的背景の解明、日本人集団における縄文割合に関する遺伝的背景と表現型・疾患との関連の解明、HPV関連中咽頭がんのHPVインテグレーションの全容解明、遺伝子環境交互作用を用いた多層的オミクス解析による疾患病態の解明、男性特異的遺伝的制御機構の解明、多発性硬化症の遺伝的背景の解明","en":"Elucidation of disease biology based on trans-omics analysis, GWAS in the Japanese and trans-ethnic populations, Elucidation of the mechanism of COVID-19 severity, Improving the performance of type 2 diabetes polygenic predictions, Elucidation of the genetic architecture of recurrent pregnancy loss, Elucidation of the association between Jomon component in the Japanese population and phenotypes and diseases, Elucidation of the entire HPV integration in HPV-associated Oropharyngeal Cancer, Elucidation of disease state regulation by gene-environment interactions through multi-layered omics analysis, Elucidation of male-specific genetic regulation through multi-layered omics analysis, Elucidation of the genetic architecture of multiple sclerosis"},"methods":{"ja":"メタゲノムシークエンス、ゲノムワイド関連解析、small RNA-seq解析、single-cell RNA-seq解析、eQTL解析、全ゲノムシーケンス、プロテオミクス","en":"Metagenome shotgun sequencing, genome-wide association study (GWAS), small RNA-seq and eQTL analyses, whole genome sequencing (WGS), single-cell RNA sequencing, proteomics"},"targets":{"ja":"日本人集団（95＋103＋227＋30＋136 名）の腸内細菌叢のメタゲノムシークエンスデータ\n肺胞蛋白症患者：198名、対照者：395名のゲノムワイド関連解析データ\nバイオバンク・ジャパン（179,000名）、UKバイオバンク（361,000名）、FinnGen（136,000名）の220形質のゲノムワイド関連解析データ\n日本人集団141名のsmall RNA-seq解析により定量した個人毎のmiRNAリードカウントデータと、全ゲノムシーケンス解析データと合わせて解析したeQTL解析データ\n炎症性腸疾患症例（潰瘍性大腸炎35症例、クローン病39症例）、対照健常者40名のメタゲノムシークエンスデータ\n頭蓋内胚細胞腫瘍患者：133名、対照者：762名のゲノムワイド関連解析データ\nバイオバンク・ジャパン（161,801名）、UKバイオバンク（377,583名）の9形質のゲノムワイド関連解析データ\n日本人集団におけるCOVID-19患者30＋43症例と健常者31＋44名の末梢血単核細胞（PBMC）から抽出したRNAを用いたscRNA-seqデータ\n微生物ゲノムのMetagenome-Assembled Genome（MAG）・ウイルスのゲノム配列・CRISPR spacer配列\n日本人88名および健常人73名のショットガンシークエンスデータ、ならびに、日本人5名の高深度ショットガンシークエンスデータ\nバイオバンク・ジャパン（180,215名）、UKバイオバンク（377,441名）の15形質のゲノムワイド関連解析データ、ならびに、FinnGen、Breast Cancer Association Consortium（BCAC）、Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome（PRACTICAL）の要約統計量を含めたメタ解析（乳がん：648,746名、前立腺がん：482,080名）データ\n間質性膀胱炎ハンナ型：144名、対照者：41,516名のゲノムワイド関連解析データ\n腸内微生物叢（日本人集団524名、423種の微生物）のゲノムワイド関連解析データ\n血中代謝物（日本人集団362名、306種の代謝物）のゲノムワイド関連解析データ\nKEGG Gene OrthologおよびKEGG Pathwayのゲノムワイド関連解析データ\nバイオバンク・ジャパン2型糖尿病症例27,642名と対照群70,242名、UKバイオバンクの2型糖尿病症例27,642名と対照群70,242名のゲノムワイド関連解析データを基に算出した、ポリジェニックスコア予測対象である東北メディカル・メガバンクおよびバイオバンク・ジャパン2次コホートに存在する多型の重みデータ\n不育症患者：1,728名、対照者：24,315名のゲノムワイド関連解析データ\n自己免疫疾患：2,238名、対照群：2,919名を対象とした全ゲノムシーケンスより算出した内在性ヘルペスウイルス6（eHHV-6）の有無やアネロウイルス量データ\n自己免疫疾患238例（eHHV-6B陽性22例、陰性216例）のゲノムワイド関連解析データ\neHHV-6B陽性SLE患者3例と陰性SLE患者5例のシングルセルRNAシーケンスデータ\nバイオバンク・ジャパン第1コホート171,287名の各人の縄文割合を形質としたゲノムワイド関連解析データ\nHPV関連中咽頭がん患者14例の全ゲノムシーケンスデータ、ならびに、HPV関連中咽頭がん患者19例、HPV非関連中咽頭がん患者17例、健常対象者2名のバルクRNAシーケンスデータ\n視神経脊髄炎関連疾患（NMOSD）：240症例、対照者：50,578名のゲノムワイドメタ解析の要約統計量、ならびに、NMOSD25症例から採取した末梢血単核細胞由来のscRNA-seq解析オブジェクトの統合データ\n日本人集団におけるCOVID-19感染88症例および健常者146名のscRNA-seq解析データを用いた、40細胞分画のeQTL統計量\n日本人集団におけるCOVID-19感染83症例と健常者144名の血漿プロテオームデータ\n日本人集団におけるCOVID-19感染15症例および健常者72名のPBMCから抽出したRNAを用いたscRNA-seqデータ\n乾癬1,415症例、対照群3,968名を対象としたゲノムワイド関連解析データ\nバイオバンク・ジャパン（166,757名）、UKバイオバンク（273,453名）の374形質のゲノムワイド関連解析データ\n日本人男性 161,026名（バイオバンク・ジャパン120,522名、日本COVID-19タスクフォース（Japan COVID-19 Task Force：JCTF）3,161名、東北メディカル・メガバンク26,544名、COVID-19 ワクチン接種者コホート（COVC）888名、愛知県がんセンター病院疫学研究（HERPACC）6,636名、次世代多目的コホート（JPHC）3,275名）のY染色体欠失のゲノムワイド関連解析データ\n日本人男性気管支喘息患者3症例のscRNA-seqデータ、日本人男性COVID-19患者4症例のsnMultiome（RNA＋ATAC）データ\n重症筋無力症患者：1,434名（Japan MG Registry）、対照者：42,913名（バイオバンク・ジャパン）のゲノムワイド関連解析データ\nもやもや病401症例、対照47,255名のゲノムワイド関連解析データ\n日本人集団の多発性硬化症（multiple sclerosis：MS）688症例と対照健常者205,199名、ヨーロッパ人集団のMS 27,572症例と対照健常者1,436,801名、アフリカ人集団のMS 819症例と対照健常者155,904名、それぞれのGWASならびに、アメリカ人集団のMS 295症例と対照健常者45,569名を加えた多祖先集団のMS 29,374症例と対照健常者1,843,563名のメタ解析の要約統計量。併せて、MS 20症例のscRNA-seq解析オブジェクトの統合データ","en":"Metagenomic data of gut microbiome in the Japanese population (95 + 103 + 227 + 30 + 136 individuals)\nAutoimmune pulmonary alveolar proteinosis cases: 198, Control participants: 395\nPopulations: Biobank Japan (n = 179,000), UK biobank (n = 361,000), and FinnGen (n = 136,000), Phenotypes: 220\n141 Japanese individuals\nMetagenomic data of gut microbiome in Inflammatory Bowel Disease (35 Ulcerative Colitis and 39 Crohn's disease) and 40 Healthy controls\nIntracranial germ cell tumors cases: 133, Control participants: 762\nPopulations: Biobank Japan (n = 161,801) and UK biobank (n = 377,583), Phenotypes: 9\nPeripheral blood mononuclear cell (PBMC) from Japanese population (COVID-19: n = 30 + 43, Healthy controls: n = 31 + 44)\nMicrobial genome: Metagenome-Assembled Genome (MAG), Viral genome, CRISPR spacers\nMetagenomic data of gut microbiome in the Japanese population (88 + 5 individuals) and healthy individuals (n = 73)\nBioBank Japan (n=180,215), UK Biobank (n=377,441), and large-scale meta-analysis including the summary statistics of other cohorts [FinnGen, Breast Cancer Association Consortium (BCAC), and Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL)] for breast and prostate cancer (n=648,746 and 482,080), Phenotypes: 15\nHunner-type interstitial cystitis cases: 144, Control participants: 41,516\n524 Japanese individuals for gut microbiome-host genome association analysis, 362 Japanese individuals for plasma metabolite-host genome association analysis\nThe weights of variants existing in the target cohorts, Tohoku Medical Megabank and the second cohort of BBJ, calculated from GWAS results on 27,642 type 2 diabetes cases and 70,242 controls from BioBank Japan and UK Biobank\nRecurrent pregnancy loss cases: 1,728, Control participants: 24,315\nAutoimmune diseases cases: 2,238, Healthy controls: 2,919\nThe first cohort of BioBank Japan (n = 171,287)\nHPV-associated oropharyngeal cancer cases: 32, Non-HPV-associated oropharyngeal cancer cases: 17, Healthy controls: 2\nNeuromyelitis optica spectrum disorders (NMOSD) cases: 240, Control participants: 50,578\nSingle-cell eQTL summary statistics of 40 immune cell types for Japanese population (COVID-19: n = 88, Healthy controls: n = 146)\nPlasma proteomics data from 83 COVID-19 patients and 144 healthy controls of Japanese\nSingle-cell RNA-sequencing for PBMC from 15 COVID-19 patients and 72 healthy controls of Japanese\nPsoriasis cases: 1,415, Control participants: 3,968\nPopulations: Biobank Japan (n = 166,757) and UK biobank (n = 273,453), Phenotypes: 374\n161,026 Japanese males (BBJ: 120,522, JCTF: 3,161, TMM: 26,544, COVC: 888, HERPACC: 6,636, JPHC: 3,275)\nJapanese male asthma patients: 3 cases, Japanese male COVID-19 patients: 4 cases\nMyasthenia gravis cases: 1,434 (Japan MG Registry), Control participants: 42,913 (BioBank Japan)\n401 Moyamoya diseasepatients and 47,255 controls\nSummary statistics of the genome-wide association study (GWAS) meta-analysis: 688 multiple sclerosis (MS) patients and 205,199 controls in the Japanese population, 27,572 MS patients and 1,436,801 controls in the European population, 819 MS patients and 155,904 controls in the African population, and 29,374 MS patients and 1,843,563 controls in the cross-population (293 MS patients and 45,569 controls in the US population was included) and Single-cell RNA-seq data from 20 MS patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"メタゲノム\nゲノムワイド関連\n発現\neQTL\nクロマチン構造","en":"Metagenome, GWAS, Expression profiling, eQTL, Chromatin structure analysis"},"targets":{"ja":"日本人集団：95＋103＋227＋30＋141＋136＋88＋5＋524名\nBBJ：180,215名\nUKバイオバンク：377,583名\nFinnGen：136,000＋224,352名\nBCAC：247,173名\nPRACTICAL：140,254名\n肺胞蛋白症：198症例\n対照者：395名\n潰瘍性大腸炎：35症例\nクローン病：39症例\n健常対照者：40名\n頭蓋内胚細胞腫瘍：133症例\n対照者：762名\nCOVID-19：30＋43＋15症例\n健常対照者：31＋44＋27名\n健常者：73名\n間質性膀胱炎ハンナ型：144症例\n2型糖尿病：27,642症例（BBJ）\n対照者：70,242名（BBJ）\n2型糖尿病：27,642症例（UKバイオバンク）\n対照者：70,242名（UKバイオバンク）\n不育症：1,728症例\n自己免疫疾患：2,238症例\n対照者：2,919名\nHPV関連中咽頭癌：32症例\nHPV非関連中咽頭癌：17症例\n対照者：2名\n視神経脊髄炎関連疾患：240症例\n対照者：50,578名\n乾癬：204症例\n対照者：1,231名\n日本人男性：161,026名（BBJ、JCTF、TMM、COVC、HERPACC、JPHC）\n日本人男性気管支喘息：3症例\n日本人男性COVID-19：4症例\n重症筋無力症：1,434症例\n対照者：42,913名\nもやもや病：401症例\n多発性硬化症：20症例\n多発性硬化症：688症例（日本人集団）\n対照者：205,199名\n多発性硬化症：27,572症例（ヨーロッパ人集団）\n対照者：1,436,801名\n多発性硬化症：819症例（アフリカ人集団）\n対照者：155,904名\n多発性硬化症：295症例（アメリカ人集団）\n対照者：45,569名\n（日本人、イギリス人、フィンランド人、アフリカ人、アメリカ人）","en":"95 + 103 + 227 + 30 + 141 + 136 + 88 + 5 + 524 individuals\nBBJ: 180,215 individuals\nUK biobank: 377,583 individuals\nFinnGen: 136,000 + 224,352 individuals\nBACC: 247,173 individuals\nPRACTICAL: 140,254 individuals\nAutoimmune pulmonary alveolar proteinosis: 198 cases\nControl participants: 395\nUlcerative Colitis: 35 cases\nCrohn's disease: 39 cases\nHealthy controls: 40 individuals\nIntracranial germ cell tumors: 133 cases\nControl participants: 762\nCOVID-19: 30 + 43 + 15 cases\nHealthy controls: 31 + 44 + 27 individuals\nHealthy subjects: 73 individuals\nHunner-type interstitial cystitis: 144 cases\nType 2 diabetes: 27,642 cases (BBJ)\nControl participants: 70,242 (BBJ)\nType 2 diabetes: 27,642 cases (UK biobank)\nControl participants: 70,242 (UK biobank)\nRecurrent pregnancy loss: 1,728 cases\nAutoimmune diseases: 2,238 cases\nControl participants: 2,919\nHPV-associated oropharyngeal cancer: 32 cases\nNon-HPV-associated oropharyngeal cancer: 17 cases\nControl participants: 2\nNMOSD: 240 cases\nControl participants: 50,578\nPsoriasis: 204 cases\nControl participants: 1,231\nJapanese males: 161,026 (BBJ, JCTF, TMM, COVC, HERPACC, JPHC)\nJapanese male asthma: 3 cases\nJapanese male COVID-19: 4 cases\nMyasthenia gravis: 1,434 cases\nControl participants: 42,913\nMoyamoya disease: 401 cases\nControl participants: 47,255\nmultiple sclerosis (MS): 20 cases\nMS: 688 cases (Japanese)\nControl participants: 205,199\nMS: 27,572 cases (European)\nControl participants: 1,436,801\nMS: 819 cases (African)\nControl participants: 155,904\nMS: 295 cases (American)\nControl participants: 45,569\n(Japanese, British, Finnish, African, American)"},"typeOfData":{"ja":"メタゲノム\nSNP-chip\nNGS\n（WGS、RNA-seq、scRNA-seq、snRNA-seq、snATAC-seq）\neHHV-6の有無、アネロウイルス量\nプロテオミクス","en":"Metagenome, SNP-chip, NGS (WGS, RNA-seq, scRNA-seq, snRNA-seq, snATAC-seq), Presence or absence of endogenous herpesvirus 6, anellovirus load, Proteomics"}},"releaseNote":{"ja":"・日本人集団（多発性硬化症 [multiple sclerosis：MS] 688症例、対照健常者205,199名）、ヨーロッパ人集団（MS27,572症例、対照健常者1,436,801名）、アフリカ人集団（MS819症例、対照健常者155,904名）、アメリカ人集団（MS295症例、対照健常者45,569名）を加えた多祖先集団（MS29,374症例、対照健常者1,843,563名）の末梢血から抽出したDNAを用いたSNPアレイ解析により塩基配列を決定し、検出されたバリアントを対象としたゲノムワイド関連解析要約統計量をtsvファイルにて提供する。\n・多発性硬化症（MS）20症例のscRNA-seq解析の統合データをh5ad形式にて提供する。","en":"DNAs extracted from peripheral blood cells of multiple sclerosis (MS) patients and conrols (688 MS patients and 205,199 controls in the Japanese population, 27,572 MS patients and 1,436,801 controls in the European population, 819 MS patients and 155,904 controls in the African population, and 29,374 MS patients and 1,843,563 controls in the cross-population (293 MS patients and 45,569 controls in the US population was included).) were genotyped and performed genome-wide association study. A tsv file is provided.\n- RNAs extracted from PBMCs of 20 MS patients were subjected to single-cell RNA-seq analysis. Integrated data are provided (h5ad file)."},"dataProviders":[{"name":{"ja":"岡田 随象","en":"Yukinori Okada"},"organization":{"name":{"ja":"大阪大学大学院 医学系研究科 遺伝統計学","en":"Department of Statistical Genetics, Osaka University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"遺伝統計学が紐解く微生物叢・宿主・疾患・創薬のクロストーク","en":"Crosstalk among microbiome, host, disease, and drug discovery enhanced by statistical genetics"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ソロタイプ（PRIME）","en":"Precursory Research for Innovative Medical care (PRIME), Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19gm6010001"]},{"title":{"ja":"メタゲノムワイド関連解析による疾患特異的微生物叢解明と個別化医療実装","en":"Elucidation of disease-specific microbiota and personalized medicine by metagenome-wide association studies"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ステップタイプ（FORCE）","en":"FORCE, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20gm4010006"]},{"title":{"ja":"横断的オミクス解析を駆使した肺胞蛋白症の病態解明とインシリコ・リポジショニング創薬","en":"Biology and in silico drug repositioning of pulmonary alveolar proteinosis using trans-layer omics analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ek0109413"]},{"title":{"ja":"疾患ゲノム情報を活用した自己免疫疾患における核酸ゲノム創薬の推進","en":"Nucleic genome drug discovery for autoimmune diseases through in-silico and patient-oriented screening utilizing large-scale disease genetics"},"agency":{"ja":"日本医療研究開発機構（AMED） 免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ek0410041"]},{"title":{"ja":"免疫オミクス情報の横断的統合による関節リウマチのゲノム個別化医療の実現","en":"Genomic prediction medicine of rheumatoid arthritis based on comprehensive immune-omics resources"},"agency":{"ja":"日本医療研究開発機構（AMED） 免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21ek0410075"]},{"title":{"ja":"遺伝統計学に基づく日本人集団のゲノム個別化医療の実装","en":"Implementation of genomic prediction medicine based on statistical genetics"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21km0405211"]},{"title":{"ja":"次世代ゲノミクス研究による乾癬の疾患病態解明・個別化医療・創薬","en":"Next-generation genomics analyses elucidates biology, personalized medicine, and drug discovery of psoriasis"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21km0405217"]},{"title":{"ja":"横断的オミクス解析と全ゲノムシークエンスを駆使した疾患病態と組織特異性の解明","en":"Elucidation of disease biology and tissue specificity by trans-layer omics analysis and whole-genome sequencing"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["19H01021"]},{"title":{"ja":"統合シークエンス解析による免疫アレルギー疾患ダイナミクスの解明","en":"Elucidation of immune and allergic disease dynamics by integrative sequencing analysis"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["22H00476"]}],"relatedPublications":[{"title":"Metagenome-wide association study of gut microbiome revealed novel aetiology of rheumatoid arthritis in the Japanese population.","doi":"https://doi.org/10.1136/annrheumdis-2019-215743","datasets":["JGAD000290"]},{"title":"Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.","doi":"https://doi.org/10.1038/s41467-021-21011-y","datasets":["NHA000154"]},{"title":"A metagenome-wide association study of gut microbiome in patients with multiple sclerosis revealed novel disease pathology.","doi":"https://doi.org/10.3389/fcimb.2020.585973","datasets":["JGAD000363"]},{"title":"A global atlas of genetic associations of 220 deep phenotypes","doi":"https://doi.org/10.1038/s41588-021-00931-x","datasets":["NHA000162"]},{"title":"Metagenome-wide association study revealed disease-specific landscape of the gut microbiome of systemic lupus erythematosus in Japanese","doi":"https://dx.doi.org/10.1136/annrheumdis-2021-220687","datasets":["JGAD000427"]},{"title":"Whole gut virome analysis of 476 Japanese revealed a link between phage and autoimmune disease","doi":"https://dx.doi.org/10.1136/annrheumdis-2021-221267","datasets":["JGAD000532"]},{"title":"Insights from complex trait fine-mapping across diverse 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hematological malignancies"},"summary":{"aims":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析を行い、疾患モデルを用いた薬剤応答性の解析を含め、分子病態を明らかにし、治療成績の向上に資する","en":"To perform comprehensive genomic analysis of hematological malignancies, including drug response analysis using disease models, to elucidate molecular pathogenesis and contribute to improved treatment outcomes."},"methods":{"ja":"自己正常口腔細胞を対照として、急性骨髄性白血病と縦隔胚細胞腫瘍の両腫瘍部位の全エクソーム解析を行い、腫瘍細胞に生じている体細胞変異を解析する。成人T細胞白血病リンパ腫患者5名から1モデルずつ作製したPDX 5モデル（vehicle群、MALT1阻害薬CRD-1441551投与群、各n=3）から腫瘍細胞を採取し、RNA-seq解析を行った。","en":"Whole exome sequencing was performed for both acute myeloid leukemia cells and mediastinal germ cell tumor cells, and somatic mutations of both tumor cells were identified, using normal buccal cells as a control. RNA-seq was performed for tumour cells harvested from 5 adult T-cell leukemia/lymphoma PDX models (vehicle and MALT1 inhibitor CRD-1441551-treated, n=3 per condition)."},"targets":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例1名、成人T細胞白血病リンパ腫患者5名から1モデルずつ作製したPDX 5モデル","en":"Patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor, 5 PDX models of adult T-cell leukemia/lymphoma, each established from a separate patient (one model per patient)."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例：1症例\n成人T細胞白血病リンパ腫：5症例\n（日本人）","en":"1 patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor\n5 patients with adult T-cell leukemia/lymphoma\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"成人T細胞白血病リンパ腫5症例から1モデルずつ作製したPDX 5モデルから採取した腫瘍細胞より抽出したRNAを用いたRNA-seq解析の結果をbamファイルにて提供する。NEBNext Ultra RNA Library Prep KitによりRNAライブラリを作成し、DNBSEQ-G400（MGI Tech）にて平均長150塩基を解読した（paired-end）。","en":"RNAs extracted from tumour cells harvested from 5 adult T-cell leukemia/lymphoma PDX models were used for the RNA-seq analysis. RNA libraries were established with the NEBNext Ultra RNA Library Prep Kit and sequenced by DNBSEQ-G400 (MGI Tech) platform (paired-end; 150 bp). Bam files are provided."},"dataProviders":[{"name":{"ja":"下田 和哉","en":"Kazuya Shimoda"},"organization":{"name":{"ja":"宮崎大学医学部 内科学講座 消化器血液学分野","en":"Division of Gastroenterology and Hematology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki"}}}],"researchProjects":[{"name":{"ja":null,"en":null},"url":{"ja":[{"url":"http://www.med.miyazaki-u.ac.jp/home/2nai/","text":"http://www.med.miyazaki-u.ac.jp/home/2nai/"}],"en":null}}],"grants":[{"title":{"ja":"造血器腫瘍における個別化医療の実現を目指した遺伝子解析パネルの開発","en":"Development of a comprehensive genomic profiling assay for hematological malignancies."},"agency":{"ja":"国立がん研究センター研究開発費","en":"National Cancer Center Research and Development Funds"},"grantIds":["30-A-1"]},{"title":{"ja":"血液腫瘍の発症ハイリスク群同定法の確立","en":"Establishment of a method to identify high-risk groups for the development of hematological tumors."},"agency":{"ja":"宮崎大学医学部附属病院臨床研究支援経費","en":"Grant-in-Aid for Clinical Research from University of Miyazaki Hospital"},"grantIds":["30-GH-3"]},{"title":{"ja":"成人T細胞白血病リンパ腫に対する新規テーラーメイド治療","en":"Novel Taylor-made therapy for adult T-cell leukemia/lymphoma"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療分野研究成果展開事業","en":"Medical Research and Development Programs Focused on Technology Transfers: Development of Advanced Measurement and Analysis Systems (AMED-SENTAN), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18im0210102"]},{"title":{"ja":"成人T細胞白血病・リンパ腫(ATL)最適化医療の確立とハイリスクキャリアの同定","en":"Establishment of precision medicine for ATL and identification of high risk HTLV-1 carriers"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ck0106254"]},{"title":{"ja":"難治性リンパ腫に対するMALT1阻害剤の開発","en":"Development of MALT1 inhibitor for intractable lymphomas"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ck0106409"]},{"title":{"ja":"遺伝子異常の全貌とクローン構造の理解に基づくATL個別化診療の確立","en":"Establishment of personalized medicine for ATL based on the understanding of the genomic landscape and clonal structure"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ck0106538"]},{"title":{"ja":"ATL新規治療標的同定と、個別化医療への展開","en":"Identification of novel therapeutic targets and development of personalized medicine for ATL"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ck0106789"]},{"title":{"ja":"ATL発症マウスモデルの作成と腫瘍生存シグナルの多様性を考慮した精密医療の確立","en":"Development of an ATL mouse model and the establishment of precision medicine that accounts for the diversity of tumor survival signals"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23K07840"]},{"title":{"ja":"環境細胞との相互作用によるATL発症機序の解明と、分子脆弱性に基づく治療法開発","en":"Elucidation of the mechanism of ATL development through interactions with microenvironmental cells, and development of therapeutic strategies based on molecular vulnerabilities"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["26K02444"]}],"relatedPublications":[{"title":"TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia.","doi":"https://doi.org/10.1186/s12885-019-6497-0","datasets":["JGAD000297"]},{"title":"The requirement of MALT1 activity for the growth of adult T-cell leukemia/lymphoma","doi":"https://doi.org/10.1016/j.isci.2026.116850","datasets":["JGAD001065"]}],"datasets":["JGAD000297","JGAD001065"],"controlledAccessUsers":[]}]}