Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations.

ABSTRACT: A key aim for current genome-wide association studies (GWAS) is to interrogate the full spectrum of genetic variation underlying human traits, including rare variants, across populations. Deep whole-genome sequencing is the gold standard to fully capture genetic variation, but remains prohibitively expensive for large sample sizes. Array genotyping interrogates a sparser set of variants, which can be used as a scaffold for genotype imputation to capture a wider set of variants. However, imputation quality depends crucially on reference panel size and genetic distance from the target population. Here, we consider sequencing a subset of GWAS participants and imputing the rest using a reference panel that includes both sequenced GWAS participants and an external reference panel. We investigat

SUBMITTER: Quick C 

PROVIDER: S-EPMC7449570 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature