Article

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

2019-10-24

Abstract excerpt

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 co...

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Literature Corpus work: 2fa52459-1f76-5d52-acb2-f6971910411d
DOI: 10.1101/809244

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