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

Authors :
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
Source :
Science Advances. 8/11/2023, Vol. 9 Issue 32, p1-17. 17p.
Publication Year :
2023

Abstract

The article informs A comprehensive whole-genome reference panel containing over 14,000 individuals from East Asian populations has been created, accelerating the identification of rare functional genetic variants. This reference panel greatly enhances imputation accuracy for rare and low-frequency variants within East Asian populations, leading to the discovery of previously unidentified associations and genes with significant effects on phenotypes.

Details

Language :
English
ISSN :
23752548
Volume :
9
Issue :
32
Database :
Academic Search Index
Journal :
Science Advances
Publication Type :
Academic Journal
Accession number :
169860428
Full Text :
https://doi.org/10.1126/sciadv.adg6319