Article
A reanalysis of a genome-wide association study on breast cancer in Asian populations using the SG10K_Health reference panel for imputation: a multi-Centre case-control analysis.
Human molecular genetics - 23 Mar 2026
Chang Xuling, Mariapun Shivaani, Li Mengyu, Wang Ling, Ho Peh Joo, Khng Alexis Jiaying, Muir Kenneth R, Lophatananon Artitaya, Aronson Kristan J, Murphy Rachel A, Kwong Ava, Au Chun Hang, Kim Sung-Won, Park Sue K, Stram Daniel O, Wu Anna H, Teo Soo-Hwang, Yip Cheng-Har, Tai Nur Aishah Mohd, John Esther M, Kurian Allison W, Iwasaki Motoki, Yamaji Taiki, Choi Ji-Yeob, Kang Daehee, Shu Xiao-Ou, Zheng Wei, Hartman Mikael, Tan Ern Yu, Tan Veronique Kiak-Mien, Lim Geok Hoon, Bolla Manjeet K, Dunning Alison M, Dennis Joe, Wang Qin, Naven Marc, Easton Douglas F, Dorajoo Rajkumar S/O, Ho Weang-Kee, Li Jingmei
Abstract excerpt
Genome-wide association studies (GWAS) have identified numerous genetic variants linked to breast cancer risk, but most discoveries come from European populations, limiting their applicability to other populations. Here, we show that the choice of genotype imputation reference panel, an essential step for GWAS, affects variant detection in Asian populations. Using two large breast cancer datasets from the Breast...
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