Article
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Nature communications - 5 Nov 2022
Chan Sock Hoai, Bylstra Yasmin, Teo Jing Xian, Kuan Jyn Ling, Bertin Nicolas, Gonzalez-Porta Mar, Hebrard Maxime, Tirado-Magallanes Roberto, Tan Joanna Hui Juan, Jeyakani Justin, Li Zhihui, Chai Jin Fang, Chong Yap Seng, Davila Sonia, Goh Liuh Ling, Lee Eng Sing, Wong Eleanor, Wong Tien Yin, Prabhakar Shyam, Liu Jianjun, Cheng Ching-Yu, Eisenhaber Birgit, Karnani Neerja, Leong Khai Pang, Sim Xueling, Yeo Khung Keong, Chambers John C, Tai E-Shyong, Tan Patrick, Jamuar Saumya S, Ngeow Joanne, Lim Weng Khong
Abstract excerpt
Asian populations are under-represented in human genomics research. Here, we characterize clinically significant genetic variation in 9051 genomes representing East Asian, South Asian, and severely under-represented Austronesian-speaking Southeast Asian ancestries. We observe disparate genetic risk burden attributable to ancestry-specific recurrent variants and identify individuals with variants specific to...
Topics
- Child
- Humans
- Asian People
- Genome, Human
- Ethnicity
- Pharmacogenetics
- Phenotype