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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220258/
https://www.ncbi.nlm.nih.gov/pubmed/30405126
http://dx.doi.org/10.1038/s41467-018-07070-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220258/
https://www.ncbi.nlm.nih.gov/pubmed/30405126
http://dx.doi.org/10.1038/s41467-018-07070-8

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