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Article

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

PLoS genetics - 1 Nov 2019

Halachev Mihail, Meynert Alison, Taylor Martin S, Vitart Veronique, Kerr Shona M, Klaric Lucija, Aitman Timothy J, Haley Chris S, Prendergast James G, Pugh Carys, Hume David A, Harris Sarah E, Liewald David C, Deary Ian J, Semple Colin A, Wilson James F

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...

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PMID: 31765389
DOI: 10.1371/journal.pgen.1008480
PMCID: PMC6901239

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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