Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.

ABSTRACT: Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift can result in higher frequencies of variants that are otherwise rare. We present the first whole genome sequencing (WGS) study of the VIKING cohort, a representative collection of samples from the isolated Shetland population in northern Scotland, and explore how its genetic characteristics compare to a mainland Scottish population. Our analyses reveal the strong contributions played by the founder effect and genetic drift in shaping genomic variation in the VIKING cohort. About one tenth of all high-quality variants discovered are unique to the

SUBMITTER: Halachev M 

PROVIDER: S-EPMC6901239 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature