| 論文種別 | 原著(症例報告除く) |
| 言語種別 | 英語 |
| 査読の有無 | その他(不明) |
| 表題 | Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population. |
| 掲載誌名 | 正式名：Journal of human genetics 略 称：J Hum Genet ISSNコード：1435232X/14345161 |
| 掲載区分 | 国外 |
| 巻・号・頁 | pp.Online ahead of print |
| 著者・共著者 | Koichiro Higasa, Yoichiro Kamatani, Takahisa Kawaguchi, Shuji Kawaguchi, Saori Sakaue, Ta-Yu Yang, Yukinori Okada, Yukihide Momozawa, Izumi Yamaguchi, Dominic Nelson, Simon Gravel, Yoshinori Murakami, Ryo Yamada, Keitaro Matsuo, Yoshihisa Yamano, Changhoon Kim, Jeong-Sun Seo, Michiaki Kubo, Fumihiko Matsuda |
| 発行年月 | 2025/11 |
| 概要 | Whole-genome sequence information currently available for large-scale sequencing studies is biased toward European descent populations. Such bias causes difficulties in identifying disease-associated genetic variations in non-European populations, including the Japanese. Here, to comprehensively identify genetic variants, we sequenced 3135 individuals representing the genetic diversity of the Japanese population. Of the 44,757,785 identified variants, 31.0% exhibiting a minor allele frequency of <1% were novel. Using these variants, we constructed a reference haplotype and graph-structured reference sequence to facilitate accurate imputation and variant characterization. Our findings suggest that integrating genetic variations from ethnically diverse populations into the prevailing catalogs is essential to achieve precision medicine for all populations. |
| DOI | 10.1038/s10038-025-01430-1 |
| PMID | 41206389 |