{"id":"hum0014","secondaryIds":[],"version":11,"url":"https://humandbs.dbcls.jp/research/hum0014/v11","datePublished":"2018-10-16","versions":[{"version":1,"datePublished":"2014-09-30"},{"version":2,"datePublished":"2015-12-28"},{"version":3,"datePublished":"2016-01-28"},{"version":4,"datePublished":"2016-02-02"},{"version":5,"datePublished":"2017-05-18"},{"version":6,"datePublished":"2017-09-08"},{"version":7,"datePublished":"2018-04-04"},{"version":8,"datePublished":"2018-05-01"},{"version":9,"datePublished":"2018-08-07"},{"version":10,"datePublished":"2018-08-13"},{"version":11,"datePublished":"2018-10-16"},{"version":12,"datePublished":"2018-12-10"},{"version":13,"datePublished":"2019-01-25"},{"version":14,"datePublished":"2019-03-26"},{"version":15,"datePublished":"2019-09-27"},{"version":16,"datePublished":"2019-10-07"},{"version":17,"datePublished":"2019-10-08"},{"version":18,"datePublished":"2019-11-26"},{"version":19,"datePublished":"2020-04-20"},{"version":20,"datePublished":"2020-08-17"},{"version":21,"datePublished":"2020-08-25"},{"version":22,"datePublished":"2021-05-21"},{"version":23,"datePublished":"2021-07-13"},{"version":24,"datePublished":"2021-11-26"},{"version":25,"datePublished":"2022-01-25"},{"version":26,"datePublished":"2022-04-01"},{"version":27,"datePublished":"2022-12-31"},{"version":28,"datePublished":"2023-04-05"},{"version":29,"datePublished":"2023-04-05"},{"version":30,"datePublished":"2023-04-20"},{"version":31,"datePublished":"2023-09-01"},{"version":32,"datePublished":"2024-01-11"},{"version":33,"datePublished":"2024-05-27"},{"version":34,"datePublished":"2024-09-19"},{"version":35,"datePublished":"2024-10-25"},{"version":36,"datePublished":"2024-11-28"},{"version":37,"datePublished":"2025-05-09"}],"title":{"ja":"オーダーメイド医療の実現プログラム","en":"Bio Bank Japan project"},"summary":{"aims":{"ja":"日本人における疾患関連遺伝子の特定","en":"Identify disease-related genes in Japanese"},"methods":{"ja":"Human610-Quad BeadChip、HumanHap550v3 Genotyping BeadChip、HumanOmniExpress-12 BeadChip、HumanExome BeadChip、 OmniExpressExome Beadchip（Illumina社）、high-density oligonucleotide arrays （Perlegen Sciences社）、もしくはインベーダー法（Hologic Japan社）により遺伝子型を決定し、心筋梗塞、2型糖尿病、アトピー性皮膚炎、心房細動、Body Mass Index（BMI）、開放隅角緑内障、58形質、初潮・閉経年齢に関するゲノムワイド関連解析（Genome Wide Association Study：GWAS）を実施。また、Illumina社 HiSeq2500を用いて、BBJ第1コホート1026名の全ゲノムシークエンス（Whole Genome Sequencing：WGS）および遺伝性乳がん原因11遺伝子翻訳領域のTarget Capture Sequencingを実施した。","en":"Genomic DNA samples were genotyped by following methods: Human610-Quad BeadChip, HumanHap550v3 Genotyping BeadChip, HumanOmniExpress-12 BeadChip, HumanExome BeadChip, OmniExpressExome BeadChip (Illumina), high-density oligonucleotide arrays (Perlegen Sciences), or Invader (Hologic Japan). Genome-Wide Association Studies (GWAS) for myocardial infarction (MI) , type II diabetes mellitus (T2DM), Atopic dermatitis (AD), atrial fibrillation (AF), and Body Mass Index (BMI), primary open-angle glaucoma (POAG), 58 quantitative traits and age at menarche / menopause were performed using about 500-600K SNPs. A whole-genome sequencing analysis for 1,026 patients, who were registered Bio Bank Japan from 2003 - 2007 was performed with Illumina HiSeq2500. A target sequencing of 11 hereditary breast cancer genes in 7,104 breast cancer patients and 23,731 controls was also performed with Illumina HiSeq2500."},"targets":{"ja":"オーダーメイド医療実現化プロジェクトおよびオーダーメイド医療の実現プログラム参加者","en":"Participants for the Tailor-made Medical Treatment Program (BioBank Japan: BBJ)"},"url":{"ja":[{"url":"https://biobankjp.org/index.html","text":"https://biobankjp.org/index.html"}],"en":[{"url":"https://biobankjp.org/en","text":"https://biobankjp.org/en"}]}},"listingSummary":{},"releaseNote":{"ja":"Illumina社のHiSeq 2500を使用して取得した、乳がん7,104症例と対照23,731名の遺伝性乳がん原因11遺伝子翻訳領域のターゲットシークエンスデータを追加した（fastq）。","en":"A target capture sequencing analysis of 11 hereditary breast cancer genes in 7,104 breast cancer patients and 23,731 controls was performed. Fastq files are provided."},"dataProviders":[{"name":{"ja":"久保 充明","en":"Michiaki Kubo"},"organization":{"name":{"ja":"理化学研究所 統合生命医科学研究センター 疾患多様性医科学研究部門","en":"RIKEN Center for Integrative Medical Sciences"}}}],"researchProjects":[{"name":{"ja":"オーダーメイド医療の実現プログラム","en":"Tailor-made Medical Treatment Program (Bio Bank Japan: BBJ)"},"url":{"ja":[{"url":"https://biobankjp.org/index.html","text":"https://biobankjp.org/index.html"}],"en":[{"url":"https://biobankjp.org/en","text":"https://biobankjp.org/en"}]}}],"grants":[{"title":{"ja":"オーダーメイド医療の実現プログラム（第3期）","en":"Tailor-made Medical Treatment Program (the 3rd phase)"},"agency":{"ja":"文部科学省 科学技術試験研究委託事業費","en":"Ministry of Education, Culture, Sports, Science and Technology in Japan"},"grantIds":null}],"relatedPublications":[{"title":"A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in 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