ヒガサ　コウイチロウ   HIGASA KOUICHIROU   日笠　幸一郎    所属   関西医科大学  附属生命医学研究所ゲノム解析部門    職種   研究所教授
論文種別	原著(症例報告除く)
言語種別	英語
査読の有無	査読あり
表題	Legacy Data Confounds Genomics Studies
掲載誌名	正式名：Molecular biology and evolution 略　 称：Mol Biol Evol ISSNコード：07374038/15371719
掲載区分	国外
出版社	Oxford University Press
巻・号・頁	37(1),pp.2-10
総ページ数	9
著者・共著者	Luke Anderson-Trocmé, Rick Farouni, Mathieu Bourgey, Yoichiro Kamatani, Koichiro Higasa, Jeong-Sun Seo, Changhoon Kim, Fumihiko Matsuda, Simon Grave
発行年月	2020/01
概要	Recent reports have identified differences in the mutational spectra across human populations. Although some of these reports have been replicated in other cohorts, most have been reported only in the 1000 Genomes Project (1kGP) data. While investigating an intriguing putative population stratification within the Japanese population, we identified a previously unreported batch effect leading to spurious mutation calls in the 1kGP data and to the apparent population stratification. Because the 1kGP data are used extensively, we find that the batch effects also lead to incorrect imputation by leading imputation servers and a small number of suspicious GWAS associations. Lower quality data from the early phases of the 1kGP thus continue to contaminate modern studies in hidden ways. It may be time to retire or upgrade such legacy sequencing data.
DOI	10.1093/molbev/msz201
PMID	31504792