GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing.

ABSTRACT: Genome-wide association studies (GWAS) have made impactful discoveries for complex diseases, often by amassing very large sample sizes. Yet, GWAS of many diseases remain underpowered, especially for non-European ancestries. One cost-effective approach to increase sample size is to combine existing cohorts, which may have limited sample size or be case-only, with public controls, but this approach is limited by the need for a large overlap in variants across genotyping arrays and the scarcity of non-European controls. We developed and validated a protocol, Genotyping Array-WGS Merge (GAWMerge), for combining genotypes from arrays and whole-genome sequencing, ensuring complete variant overlap, and allowing for diverse samples like Trans-Omics for Precision Medicine to be used. Our protocol i

SUBMITTER: Mathur R 

PROVIDER: S-EPMC9372058 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature