{"id":"hum0015","secondaryIds":[],"version":1,"url":"https://humandbs.dbcls.jp/research/hum0015/v1","datePublished":"2014-10-14","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、\n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、\n常染色体上に存在するSNVの集団内頻度を算出し、既知のSNVの内、集団内頻度が5％を超えるものを選択して公開","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 for 1070 individuals were pooled, and allele frequencies were calculated. We selected autosomal SNPs (minor allele frequency >5%) that matched known SNPs in dbSNP138."},"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","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."},"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":{},"releaseNote":{"ja":"全染色体領域を対象としたNGSにて日本人成人1070名の塩基配列を決定し、検出された変異の内集団内頻度が5％を超える常染色体上の既知SNPsの集団内頻度情報。\n塩基配列決定はIllumina [HiSeq 2500]を使用。","en":"Whole-genome sequencing by using of HiSeq 2500 was performed. After genotype calling for each individual, genotypes of 1070 individuals were pooled, and allele frequencies were calculated. Autosomal SNPs (minor allele frequency > 5%) that matched known SNPs in dbSNP138 were selected."},"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":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"]}],"datasets":["NHA000002"],"controlledAccessUsers":[]}