Integrating variant functional annotation scores have varied abilities to improve power of genome-wide association studies.

ABSTRACT: Functional annotations have the potential to increase power of genome-wide association studies (GWAS) by prioritizing variants according to their biological function, but this potential has not been well studied. We comprehensively evaluated all 1132 traits in the UK Biobank whose SNP-heritability estimates were given "medium" or "high" labels by Neale's lab. For each trait, we integrated GWAS summary statistics of close to 8 million common variants (minor allele frequency [Formula: see text]) with either their 75 individual functional scores or their meta-scores, using three different data-integration methods. Overall, the number of new genome-wide significant findings after data-integration increases as a trait SNP-heritability estimate increases. However, there is a trade-off between ne

SUBMITTER: Gao J 

PROVIDER: S-EPMC9232605 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature