{"id":"hum0182","secondaryIds":[],"version":2,"url":"https://humandbs.dbcls.jp/research/hum0182/v2","datePublished":"2020-05-12","versions":[{"version":1,"datePublished":"2019-06-20"},{"version":2,"datePublished":"2020-05-12"},{"version":3,"datePublished":"2021-01-06"},{"version":4,"datePublished":"2021-11-12"},{"version":5,"datePublished":"2022-05-27"}],"title":{"ja":"全ゲノムシークエンスデータの解析による変異と遺伝的多様性の包括的解析","en":"Comprehansive analysis of somatic mutations and genetic variations with whole genome sequencing"},"summary":{"aims":{"ja":"全ゲノムシークエンスによる構造異常の包括的解析","en":"Indetification of stractural variations by using of long read whole genome sequencing data"},"methods":{"ja":"長鎖一分子シークエンサー（nanopore）およびHiSeq 2000、Genome Analyzer IIx（Illumina）による全ゲノムシークエンス","en":"Whole genome sequencing with Nanopore sequencer, HiSeq 2000 and Genome Analyzer IIx (Illumina)"},"targets":{"ja":"① 国際がんゲノムコンソーシアム（ICGC）の際に収集した日本人肝臓がん1症例（RK067）（hum0158）の末梢血（正常細胞）由来DNA\n② HapMap日本人（NA18943）のDNA\n③ 国際がんゲノムコンソーシアム（ICGC）の際に収集した日本人肝臓がん174症例（RK001～RK338）（hum0158）の末梢血（正常細胞）由来DNA","en":"DNA samples from 2 Japanese individuals.\n1) DNA extracted from normal blood cell of a liver cancer patient (ICGC: RK067 [hum0158])\n2) HapMap sample (NA18943)\n3) DNA extracted from normal blood cell of 174 liver cancer patients (ICGC: RK001-RK338 [hum0158])"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"国際がんゲノムコンソーシアム（ICGC）の際に収集した日本人肝臓がん174症例の末梢血（正常細胞）由来DNA（RK001～RK338）を対象とし、全ゲノムシークエンスデータの再解析を行った。vcfファイルを提供する。","en":"DNA samples from Japanese individuals (174 liver cancer patients [ICGC: RK001-RK338]) were used for whole genome sequencing, and WGS data was analyzed with VCMM and IMSindel methods. VCF files are provided."},"dataProviders":[{"name":{"ja":"藤本 明洋","en":"Akihiro Fujimoto"},"organization":{"name":{"ja":"京都大学大学院医学研究科 創薬医学講座","en":"Department of Drug Discovery Medicine, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[{"name":{"ja":"国立研究開発法人日本医療研究開発機構 ゲノム医療実現推進プラットフォーム事業「先端ゲノム研究開発」プロジェクト","en":"Japan Agency for Medical Research and Development (AMED)"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"先進的シークエンス情報解析技術基盤の開発","en":"Development of advanced data analysis methods for genome sequencing"},"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":["JP18km0405207"]}],"relatedPublications":[{"title":"Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population.","doi":"https://doi.org/10.1186/s13073-019-0656-4","datasets":["JGAD000261","DRA008482"]}],"datasets":["JGAD000261","DRA008482"],"controlledAccessUsers":[{"principalInvestigator":{"en":"Shuaicheng Li"},"affiliation":{},"country":{"ja":"香港","en":"Hong Kong"},"researchTitle":{"en":" A new method to construct the haplotypes of viral integration regions based on multiple sequencing data."},"periodStart":"2021-12-13","periodEnd":"2023-01-05","datasets":["JGAD000261"]},{"principalInvestigator":{"en":"zeng tianfu"},"affiliation":{"en":"Laboratory of Omics Technology and Bioinformatics, Sichuan University"},"country":{"ja":"中国","en":"China"},"researchTitle":{"en":"Study on Heterogeneity of Hepatocellular Carcinoma Based on Nanopore Sequencing Technology"},"periodStart":"2023-10-30","periodEnd":"2024-09-18","datasets":["JGAD000635"]}]}