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·인용수 32
·2023
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants
Jaeyong Choi, Sungjae Kim, Juhyun Kim, Ho‐Young Son, Seong‐Keun Yoo, Chang-Uk Kim, Young Jun Park, Sungji Moon, Bukyoung Cha, Min Chul Jeon, Kyunghyuk Park, Jae Moon Yun, Belong Cho, Namcheol Kim, Changhoon Kim, Nak‐Jung Kwon, Young Joo Park, Fumihiko Matsuda, Yukihide Momozawa, Michiaki Kubo, Biobank Japan Project, Hyun-Jin Kim, Jin‐Ho Park, Jeong‐Sun Seo, Jong‐Il Kim, Sun-Wha Im
IF 12.5Science Advances
초록

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 using the reference panel and a population-specific genotype array of 72,298 subjects for eight phenotypes. This panel yields improved imputation accuracy of rare and low-frequency variants within East Asian populations compared with the largest reference panel. Thirty-nine previously unidentified associations were found, and more than half of the variants were East Asian specific. We discovered genes with rare protein-altering variants, including <i>LTBP1</i> for height and <i>GPR75</i> for body mass index, as well as putative regulatory mechanisms for rare noncoding variants with cell type-specific effects. We suggest that this dataset will add to the potential value of Asian precision medicine.

키워드
GenomeEast AsiaComputational biologyEvolutionary biologyBiologyGeneticsGeneGeography
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article
IF / 인용수
12.5 / 32
게재 연도
2023