{"id":"hum0174","version":3,"url":"https://humandbs.dbcls.jp/research/hum0174/v3","datePublished":"2023-06-29","versions":[{"version":1,"datePublished":"2020-10-06"},{"version":2,"datePublished":"2020-11-27"},{"version":3,"datePublished":"2023-06-29"},{"version":4,"datePublished":"2023-07-06"},{"version":5,"datePublished":"2023-07-10"},{"version":6,"datePublished":"2023-12-28"}],"title":{"ja":"日本人ゲノム構造変異データベースの作成","en":"Building a Database of Genomic Structural Variants in Japanese population"},"summary":{"aims":{"ja":"日本人ゲノムにおける構造変異の多様性をデータベース化する","en":"To build a database of genomic structural variants in Japanese population"},"methods":{"ja":"日本人由来B細胞株・DNAバンクから分譲されたDNAサンプルをPacBio Sequel/Sequel II、10X Chromium、およびNanopore PromethIONによりシークエンスし、構造変異の解析を行った。","en":"We sequenced genomic DNAs using PacBio, 10X Genomics and Nanopore sequencing technologies, and analyzed genomic structural variations."},"targets":{"ja":"日本人由来B細胞株・DNAバンク（医薬基盤・健康・栄養研究所）から分譲されたサンプル、合計10検体＋11検体＋177検体＋141検体＋30検体","en":"Japanese (collected by Japanese B cell DNA bank)"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"日本人由来B細胞株・DNAバンクから分譲されたB細胞1検体より抽出したDNAサンプルを用いた、 Nanopore [PromethION]によるLong Read Whole Genome Sequencingデータ（bam）を提供する。","en":"Long read whole genome sequencing by Nanopore [PromethION] was performed by using purified DNA from the Japanese-origin B cell lines. Sequence raw data (bam) are provided."},"dataProviders":[{"name":{"ja":"森下 真一","en":"Shinichi Morishita"},"organization":{"name":{"ja":"東京大学大学院新領域創成科学研究科","en":"Graduate School of Frontier Sciences, the University of Tokyo"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ヒトゲノム De Novo 情報解析テクノロジーの創出","en":"Informatics for analyzing de novo human genome assemblies"},"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 先端ゲノム研究開発","en":"Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation, Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16km0405204"]},{"title":{"ja":"ヒトゲノム De Novo 情報解析テクノロジーの創出","en":"Informatics for analyzing de novo human genome assemblies"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現バイオバンク利活用プログラム","en":"Biobank - Construction and Utilization biobank for genomic medicine REalization, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21tm0424219"]}],"relatedPublications":[{"title":"Rapid and ongoing evolution of repetitive sequence structures in human centromeres.","doi":"https://doi.org/10.1126/sciadv.abd9230","datasets":["JGAD000251"]},{"title":"JTK: targeted diploid genome assembler","doi":"https://doi.org/10.1093/bioinformatics/btad398","datasets":["JGAD000706"]},{"title":"A landscape of complex tandem repeats within individual human genomes","doi":"https://doi.org/10.1038/s41467-023-41262-1","datasets":["JGAD000392","JGAD000622"]}],"datasets":["JGAD000251","JGAD000706"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"高地 雄太","en":"Yuta Kochi"},"affiliation":{"ja":"難治疾患研究所ゲノム機能多様性分野, 東京医科歯科大学","en":"Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"機能性遺伝子多型の網羅的解析を介した多因子疾患の病態解明","en":"Genetic study of complex diseases through comprehensive analysis of functional genetic variations"},"periodStart":"2023-04-12","periodEnd":"2028-03-31","datasets":["JGAD000251"]},{"principalInvestigator":{"ja":"岡田 随象","en":"Yukinori Okada"},"affiliation":{"ja":"遺伝統計学, 大阪大学大学院医学系研究科","en":"Department of Statistical Genetics, Graduate School of Medicine, Osaka University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"多層的オミクス解析による疾患病態の解明","en":"Elucidation of disease etiology by trans-layer omics analysis"},"periodStart":"2024-03-05","periodEnd":"2029-03-31","datasets":["JGAD000251","JGAD000392","JGAD000622","JGAD000725"]}]}