Original paper
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...
Paper Details
Title
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
Published Date
Nov 25, 2019
Journal
Volume
15
Issue
11
Pages
e1008480 - e1008480
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Notes
History