{"id":"hum0152","version":2,"url":"https://humandbs.dbcls.jp/research/hum0152/v2","datePublished":"2022-11-15","versions":[{"version":1,"datePublished":"2019-09-20"},{"version":2,"datePublished":"2022-11-15"}],"title":{"ja":"ゲノム・プロテオーム解析に基づく骨軟部腫瘍の分子病態把握とその臨床応用を目指す多施設共同研究","en":"Multi-institutional study on molcular pathogenesis of bone and soft tissue tumors by genome and proteome analyses and its clinical application"},"summary":{"aims":{"ja":"脱分化型脂肪肉腫のゲノム異常の解析","en":"Analysis of genomic alterations in dedifferentiated liposarcoma"},"methods":{"ja":"Exome sequencing、RNA sequencing、Whole genome sequencing","en":"Exome sequencing, RNA sequencing, Whole genome sequencing"},"targets":{"ja":"脱分化型脂肪肉腫37症例の腫瘍組織および非腫瘍組織、lipoblastoma-like tumor of the vulva（LLTV）1症例の腫瘍組織および血液","en":"37 patients with dedifferentiated liposarcoma, a patient with lipoblastoma-like tumor of the vulva (LLTV)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"脱分化型脂肪肉腫：37症例\nlipoblastoma-like tumor of the vulva：1症例\n（日本人）","en":"Dedifferentiated liposarcoma: 37 cases\nlipoblastoma-like tumor of the vulva: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、Exome、RNA-seq）","en":"NGS\n(WGS, Exome, RNA-seq)"}},"releaseNote":{"ja":"lipoblastoma-like tumor of the vulva（LLTV）1症例の腫瘍組織および血液から抽出したDNA・RNAを用いた全ゲノム解析、全エクソン解析および全トランスクリプトーム解析結果をfastqならびにbamファイルにて提供する。WGS：Illumina NovaSeq 6000にて平均長150塩基のDNA断片を解読した（Paired-end）。Exome：Twist Comprehensive Exome Panelを用いてExon領域にしぼりIllumina NovaSeq 6000にて平均長150塩基のDNA断片を解読した（Paired-end）。RNA-seq：NEBNext Ultra Directional RNA Library Prep Kit for IlluminaによるRNAライブラリ作製後、Illumina NovaSeq 6000にて平均長150 bpを読んだ（Paired-end）。","en":"DNAs and RNAs were extracted from tumor tissue and blood of a patient with lipoblastoma-like tumor of the vulva (LLTV). Whole genome sequencing was performed by llumina NovaSeq 6000 (150 bp, Paired-end). Exons were narrowed down by using of Twist Comprehensive Exome Panel and read by Illumina NovaSeq 6000 (150 bp, Paired-end). Libraries for RNA-seq were prepared with NEBNext Ultra Directional RNA Library Prep Kit for Illumina and RNA-seq was performed with Illumina NovaSeq 6000 (150 bp, Paired-end). Data are provided as fastq and bam files."},"dataProviders":[{"name":{"ja":"市川 仁","en":"Hitoshi Ichikawa"},"organization":{"name":{"ja":"国立がん研究センター 研究所 臨床ゲノム解析部門","en":"Department of Clinical Genomics, National Cancer Center Research Institute"}}}],"researchProjects":[],"grants":[{"title":{"ja":"臨床検体を用いた多層的オミクス解析による分子標的薬の肉腫への適応拡大のための基盤的研究","en":"Fundamental study for re-purposing of molecular targeting drugs for sarcoma using multi-omics approach"},"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":["JP16ck0106089"]},{"title":{"ja":"ナショナルセンターバイオバンクネットワークプロジェクト等 連携に参画する国立がん研究センター等バイオバンクの整備と運用"},"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":["26-A-1"]},{"title":{"ja":"拡張型コアファシリティ機能による、TR/リバースTRの総合支援を含む研究・開発支援"},"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":["26-A-3"]}],"relatedPublications":[{"title":"Frequent amplification of receptor tyrosine kinase genes in well-differentiated/ dedifferentiated liposarcoma","doi":"https://doi.org/10.18632/oncotarget.14652","datasets":["JGAD000264"]},{"title":"Comprehensive genetic analysis of a lipoblastoma-like tumor of the vulva","doi":"https://doi.org/10.1016/j.joscr.2022.09.002","datasets":["JGAD000648"]}],"datasets":["JGAD000264","JGAD000648"],"controlledAccessUsers":[{"principalInvestigator":{"en":"Valerie Brunton"},"affiliation":{"en":"Edinburgh Cancer Research UK Centre, University of Edinburgh"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"en":"Genomic analysis of soft tissue sarcoma"},"periodStart":"2021-07-09","periodEnd":"2025-04-17","datasets":["JGAD000264"]},{"principalInvestigator":{"en":"William Tapper"},"affiliation":{"en":"Human development and health, University of Southampton"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"en":"Utilising sarcoma omic information to identify disease gene networks and associated novel therapies for patients"},"periodStart":"2022-11-14","periodEnd":"2025-10-20","datasets":["JGAD000264"]},{"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":["JGAD000264"]}]}