From individuals to ancestries: Towards attributing trait variation to haplotypes.

ABSTRACT: Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic basis of complex traits and diseases, but limitations in SNP-centric approaches to population stratification limit the resolution of fine-scale population structures. Here we consider the use of haplotypes to represent population structure, leveraging haplotype components (HCs) for an improved understanding of trait associations and adjustment for population stratification. Using data from the UK Biobank, we showed that HCs have stronger associations with a range of phenotypes than principal components (PCs) while containing more predictive power for birthplaces globally. In GWAS, HCs-correction identifies more genome-wide significant association signals for birthplace and lifestyle-related phenotyp

SUBMITTER: Yang Y 

PROVIDER: S-EPMC12507255 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature