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Article

Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.

Journal of human genetics - 1 Apr 2026

Higasa Koichiro, Kamatani Yoichiro, Kawaguchi Takahisa, Kawaguchi Shuji, Sakaue Saori, Yang Ta-Yu, Okada Yukinori, Momozawa Yukihide, Yamaguchi Izumi, Nelson Dominic, Gravel Simon, Murakami Yoshinori, Yamada Ryo, Matsuo Keitaro, Yamano Yoshihisa, Kim Changhoon, Seo Jeong-Sun, Kubo Michiaki, Matsuda Fumihiko

Abstract excerpt

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....

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Identifiers

PMID: 41206389
DOI: 10.1038/s10038-025-01430-1
PMCID: PMC13021519

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