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Article

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.

Science advances - 9 Aug 2023

Choi Jaeyong, Kim Sungjae, Kim Juhyun, Son Ho-Young, Yoo Seong-Keun, Kim Chang-Uk, Park Young Jun, Moon Sungji, Cha Bukyoung, Jeon Min Chul, Park Kyunghyuk, Yun Jae Moon, Cho Belong, Kim Namcheol, Kim Changhoon, Kwon Nak-Jung, Park Young Joo, Matsuda Fumihiko, Momozawa Yukihide, Kubo Michiaki, Kim Hyun-Jin, Park Jin-Ho, Seo Jeong-Sun, Kim Jong-Il, Im Sun-Wha

Abstract excerpt

Underrepresentation of non-European (EUR) populations hinders growth of global precision medicine. Resources such as imputation reference panels that match the study population are necessary to find low-frequency variants with substantial effects. We created a reference panel consisting of 14,393 whole-genome sequences including more than 11,000 Asian individuals. Genome-wide association studies were conducted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37556544
DOI: 10.1126/sciadv.adg6319
PMCID: PMC10411914

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