Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory r...
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
About this item
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Author / Creator
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 and S. G. P. Consortium
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 geno...
Alternative Titles
Full title
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
Authors, Artists and Contributors
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Record Identifier
TN_cdi_plos_journals_2327563227
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2327563227
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1008480
