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Activity Number: 42 - Statistical Genetics I – New Approaches for Association Mapping
Type: Contributed
Date/Time: Monday, August 3, 2020 : 10:00 AM to 2:00 PM
Sponsor: Section on Statistics in Genomics and Genetics
Abstract #312682
Title: Identification of Population-Specific Associations in Multi-Ethnic Genome-Wide Association Studies
Author(s): Ming Hin Ng* and Yingying Wei
Companies: The Chinese University of Hong Kong and The Chinese University of Hong Kong
Keywords: multi-ethnic; GWAS; population structure; ancestry estimation; biobank; hierarchical model
Abstract:

Recent Biobank-based Genome-wide Association Studies (GWAS) are multi-ethnic by nature. As a result, if one ignores the genetic heterogeneity due to different ethnicities, one may call spurious associations between genetic variants and phenotypes or diseases. Thus, one of the main challenges in multi-ethnic GWAS involves effectively characterizing the population structure present in the genotype information and isolating their effects from the association analysis. Existing approaches either adjust the population structure with individuals’ genetic principal components or perform stratified association analyses for each ethnic group separately. Here, we develop a hierarchical model to simultaneously infer the ancestry for each individual and identify the population-specific associations for each ethnic group. Our proposed method reduces false-positive rates and enable the detection of population-specific associations without the need of self-reported ethnicity.


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