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Article

Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.

Communications biology - 19 Dec 2024

Flanagan Jack, Liu Xiaoxi, Ortega-Reyes David, Tomizuka Kohei, Matoba Nana, Akiyama Masato, Koido Masaru, Ishigaki Kazuyoshi, Ashikawa Kyota, Takata Sadaaki, Shi MingYang, Aoi Tomomi, Momozawa Yukihide, Ito Kaoru, Murakami Yoshinori, Matsuda Koichi, Kamatani Yoichiro, Morris Andrew P, Horikoshi Momoko, Terao Chikashi

Abstract excerpt

To improve imputation quality for genome-wide association studies (GWAS) conducted on the Japanese population, we developed and evaluated four Japanese population-specific reference panels. These panels were constructed through the augmentation of the 1000 Genomes Project (1KG) panel using Japanese whole genome sequencing (WGS) data, with sample sizes ranging from 1 K to 7 K individuals enrolled through the...

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PMID: 39702642
DOI: 10.1038/s42003-024-07338-4
PMCID: PMC11659288

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