{"id":"hum0024","version":1,"url":"https://humandbs.dbcls.jp/research/hum0024/v1","datePublished":"2015-04-16","versions":[{"version":1,"datePublished":"2015-04-16"}],"title":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析","en":"Comprehensive Analysis of Genetic Alterations in Hematological Malignancies"},"summary":{"aims":{"ja":"高齢者に好発する慢性骨髄性腫瘍である骨髄異形成症候群（MDS）および関連骨髄性腫瘍のRNAスプライシング因子やDNAメチル化に関わる遺伝子を網羅的に解析する。","en":"To perform a comprehensive analysis of genetic alterations of myelodysplastic syndromes (MDS) and related myeloid neoplasms (myelodysplasia)."},"methods":{"ja":"Illumina（Genome Analyzer IIxおよびHiSeq 2000/2500）を使用したExome解析","en":"Whole-exome sequencing of gDNAs extracted from leukemic cells and paired non-leukemic cells (Illumina Genome Analyzer IIx, HiSeq 2000, and HiSeq 2500)."},"targets":{"ja":"骨髄異形成症候群13症例および慢性骨髄単球性白血病1症例の腫瘍組織と非腫瘍組織","en":"13 MDSs and 1 chronic myelomonocytic leukemia (CMML) (leukemic cells and paired non-leukemic cells)"},"url":{"ja":[{"url":"https://www.m.u-tokyo.ac.jp/news/admin/release_20110912.pdf","text":"https://www.m.u-tokyo.ac.jp/news/admin/release_20110912.pdf"},{"url":"https://www.kyoto-u.ac.jp/static/ja/news_data/h/h1/news6/2013/130819_1.htm","text":"https://www.kyoto-u.ac.jp/static/ja/news_data/h/h1/news6/2013/130819_1.htm"}],"en":[{"url":"https://www.m.u-tokyo.ac.jp/news/admin/release_20110912.pdf","text":"https://www.m.u-tokyo.ac.jp/news/admin/release_20110912.pdf"},{"url":"https://www.kyoto-u.ac.jp/static/ja/news_data/h/h1/news6/2013/130819_1.htm","text":"https://www.kyoto-u.ac.jp/static/ja/news_data/h/h1/news6/2013/130819_1.htm"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"MDS：13症例\nCMML：1症例\n（日本人）","en":"13 MDSs and 1 CMML\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"このバージョンでは、骨髄異形成症候群13症例および慢性骨髄単球性白血病1症例の腫瘍組織と非腫瘍組織から抽出したDNAを用いたExome解析の結果をFastqファイルにて提供する。SureSelect Human ALL Exon kit（38 Mb, 50 Mb kit, v4）を用いてExon領域にしぼり、Genome Analyzer IIxおよびHiSeq 2000/2500にて平均長75-108塩基のDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from peripheral blood, bone marrow aspirate, and oral mucosa of 13 MDSs and 1 CMML were used for the whole exome sequencing (Fastq files). Exons were narrowed down by using of SureSelect Human All Exon v.4 and read by Illumina Genome Analyzer IIx, HiSeq 2000/2500 (paired-end: 75-108 bp)."},"dataProviders":[{"name":{"ja":"小川 誠司","en":"Seishi Ogawa"},"organization":{"name":{"ja":"京都大学大学院 医学研究科 腫瘍生物学講座","en":"Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"システム的統合理解に基づくがんの先端的診断、治療、予防法の開発","en":"システム的統合理解に基づくがんの先端的診断, 治療, 予防法の開発"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["22134006"]},{"title":{"ja":"白血病幹細胞の維持と再発に関わる遺伝学的基盤の解明","en":"Analysis on genetic basis of leukemia relapse and therapy resistance"},"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":["23249052"]},{"title":{"ja":"骨髄異形成症候群における4番染色体長腕の新規標的遺伝子の探索","en":"Exploring new gene target of 4q-UPD in Myelodysplastic syndromes"},"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":["21790907"]},{"title":{"ja":"機能性アレルのデジタルカウントによる次世代\"ExpressGenotype法\"とその産業応用","en":"機能性アレルのデジタルカウントによる次世代\"ExpressGenotype法\"とその産業応用"},"agency":{"ja":"経済産業省 独立行政法人 新エネルギー・産業技術総合開発機構（NEDO）","en":"New Energy and Industrial Technology Development Organization (NEDO)"},"grantIds":["08C46598a"]},{"title":{"ja":"骨髄異形成症候群におけるエピゲノム関連マーカーの探索と実用化","en":"骨髄異形成症候群におけるエピゲノム関連マーカーの探索と実用化"},"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":null},{"title":{"ja":"不応性貧血の治癒率向上を目指した分子・免疫 病態研究","en":"不応性貧血の治癒率向上を目指した分子・免疫 病態研究"},"agency":{"ja":"厚生労働省厚生労働科学研究費補助金 難治性疾患克服研究事業","en":"Health and Labour Science Research Grants from the Japanese Ministry of Health, Labour and Welfare, and Research on Measures for Intractable Disease"},"grantIds":null},{"title":{"ja":"未解決のがんと心臓病を撲滅する最適医療開発","en":"Development of medical technologies for treating intractable cancers and cardiovascular diseases"},"agency":{"ja":"内閣府 最先端研究開発支援プログラム（FIRST）","en":"Cabinet Office, Government of Japan Funding Program for World-Leading Innovative R&D on Science and Technology (FIRST)"},"grantIds":null}],"relatedPublications":[{"title":"Frequent pathway mutations of splicing machinery in myelodysplasia.","doi":"https://doi.org/10.1038/nature10496","datasets":["JGAD000023"]},{"title":"Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms.","doi":"https://doi.org/10.1038/ng.2731","datasets":["JGAD000023"]},{"title":"The landscape of somatic mutations in Down syndrome-related myeloid disorders.","doi":"https://doi.org/10.1038/ng.2759","datasets":["JGAD000023"]},{"title":"Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.","doi":"https://doi.org/10.1038/leu.2013.336","datasets":["JGAD000023"]}],"datasets":["JGAD000023"],"controlledAccessUsers":[]}