Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify a role for rare regulatory variation, which has hitherto been...

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Pubblicato in:Nat Commun
Autori principali: Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V. R., Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W., Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6220258/
https://ncbi.nlm.nih.gov/pubmed/30405126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-07070-8
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