Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolated population, and show enrichment of rare and low-frequency variants with predicted functi...

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Udgivet i:Nat Commun
Main Authors: Southam, Lorraine, Gilly, Arthur, Süveges, Dániel, Farmaki, Aliki-Eleni, Schwartzentruber, Jeremy, Tachmazidou, Ioanna, Matchan, Angela, Rayner, Nigel W., Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5458552/
https://ncbi.nlm.nih.gov/pubmed/28548082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms15606
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