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

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

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 a...

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Bibliographic Details
Main Authors: Mihail Halachev, Alison Meynert, Martin S Taylor, Veronique Vitart, Shona M Kerr, Lucija Klaric, S. G. P. Consortium, Timothy J Aitman, Chris S Haley, James G Prendergast, Carys Pugh, David A Hume, Sarah E Harris, David C Liewald, Ian J Deary, Colin A Semple, James F Wilson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-11-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008480

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https://doi.org/10.1371/journal.pgen.1008480

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