{"id":"hum0015","version":3,"url":"https://humandbs.dbcls.jp/research/hum0015/v3","datePublished":"2019-01-11","versions":[{"version":1,"datePublished":"2014-10-14"},{"version":2,"datePublished":"2018-12-27"},{"version":3,"datePublished":"2019-01-11"}],"title":{"ja":"ヒト全ゲノム解析に基づく高精度の住民ゲノム参照パネルの作成","en":"Construction of the Whole-genome Reference Panel of 3552 Japanese Individuals"},"summary":{"aims":{"ja":"東日本大震災の被災地を含む住民集団におけるゲノムの多型を把握するとともに、遺伝子と疾病との関係を明らかにして、未来型の個別化予防・医療に役立てる基盤を確立すること","en":"Construction of the whole-genome reference panel of Japanese individuals by deep whole-genome sequencing"},"methods":{"ja":"末梢血からゲノムDNAを抽出してライブラリとし、NGS（Illumina HiSeq 2500）により塩基配列を決定後多型箇所を検出した。","en":"DNA was extracted from the blood samples of the subjects. We conducted whole-genome sequencing by using HiSeq 2500. After genotype calling for each individual, genotype frequencies were pooled, and allele frequencies were calculated."},"targets":{"ja":"東北メディカル・メガバンク機構の地域住民コホート調査に参加した20歳以上の1070人の成人\n東北メディカル・メガバンク計画による宮城県と岩手県でのコホート調査への協力者3,342人、独立行政法人国立病院機構長崎医療センターにおける協力者181人、ながはま0次予防コホート事業への協力者29人で構成される日本人一般住民合計3,552人","en":"Selected 1070 individuals from the adult (age ≥ 20) cohort participants who gave the informed consent at the places for health survey in Miyagi prefecture, by removing relatives.\n3552 individuals from the general populations in Japan. This population includes 1) 3342 individuals who participated in Tohoku Medical Megabank Project and were recruited in Miyagi and Iwate prefectures, 2) 181 individuals recruited in National Hospital Organization Nagasaki Medical Center, 3) 29 individuals who participated in Nagahama Study."},"url":{"ja":[{"url":"https://jmorp.megabank.tohoku.ac.jp/ijgvd/","text":"https://jmorp.megabank.tohoku.ac.jp/ijgvd/"}],"en":[{"url":"https://jmorp.megabank.tohoku.ac.jp/ijgvd/","text":"https://jmorp.megabank.tohoku.ac.jp/ijgvd/"}]}},"listingSummary":{"methods":{"ja":"ゲノムワイド\n健常者内頻度","en":"Genome-wide allele frequency in control set"},"targets":{"ja":"健常者：3552名\n（日本人）","en":"3552 Participants\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"このバージョンでは、制限公開データ（Type I）として当初公開していたJGAD000159のアクセス制限（制限公開[Type I]）を非制限公開データ（hum0015.v3.3.5kjpnv2.v1）に変更し、公開を開始した。","en":"The access level of JGAD000159 (Controlled-access [Type I]) was changed to \"Unrestricted-access\" (hum0015.v3.3.5kjpnv2.v1)."},"dataProviders":[{"name":{"ja":"山本 雅之","en":"Masayuki Yamamoto"},"organization":{"name":{"ja":"東北大学 東北メディカル・メガバンク機構","en":"Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University"}}}],"researchProjects":[{"name":{"ja":"東北メディカル・メガバンク","en":"Tohoku Medical Megabank Organization"},"url":{"ja":[{"url":"https://www.megabank.tohoku.ac.jp/","text":"https://www.megabank.tohoku.ac.jp/"}],"en":[{"url":"https://www.megabank.tohoku.ac.jp/english/","text":"https://www.megabank.tohoku.ac.jp/english/"}]}}],"grants":[{"title":{"ja":"東北メディカル・メガバンク計画（東北大学）東日本大震災復興特別会計分","en":"Tohoku Medical Megabank Project (Tohoku University) Special Account of the Great East Japan Earthquake Disaster Recovery"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18km0105001"]},{"title":{"ja":"東北メディカル・メガバンク計画（東北大学）一般会計分","en":"Tohoku Medical Megabank Project (Tohoku University) General Accounting"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18km0105002"]},{"title":{"ja":"東北メディカル・メガバンク計画（岩手医科大学）東日本大震災復興特別会計分","en":"Tohoku Medical Megabank Project (Iwate Medical University) Special Account of the Great East Japan Earthquake Disaster Recovery"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18km0105003"]},{"title":{"ja":"東北メディカル・メガバンク計画（岩手医科大学）一般会計分","en":"Tohoku Medical Megabank Project (Iwate Medical University) General Accounting"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18km0105004"]},{"title":{"ja":null,"en":null},"agency":{"ja":"文部科学省 次世代医療研究開発拠点形成事業費補助金","en":"Ministry of Education, Culture, Sports, Science and TechnologyJapan"},"grantIds":null}],"relatedPublications":[{"title":"Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals","doi":"https://doi.org/10.1038/ncomms9018","datasets":["NHA000002"]},{"title":"3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome","doi":"https://doi.org/10.1038/s41439-019-0059-5","datasets":["NHA000077"]}],"datasets":["NHA000002","JGAD000237","NHA000077"],"controlledAccessUsers":[]}