Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
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ABSTRACT:
SUBMITTER: Gilly A
PROVIDER: S-EPMC6220258 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
Gilly Arthur A Suveges Daniel D Kuchenbaecker Karoline K Pollard Martin M Southam Lorraine L Hatzikotoulas Konstantinos K Farmaki Aliki-Eleni AE Bjornland Thea T Waples Ryan R Appel Emil V R EVR Casalone Elisabetta E Melloni Giorgio G Kilian Britt B Rayner Nigel W NW Ntalla Ioanna I Kundu Kousik K Walter Klaudia K Danesh John J Butterworth Adam A Barroso Inês I Tsafantakis Emmanouil E Dedoussis George G Moltke Ida I Zeggini Eleftheria E
Nature communications 20181107 1
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 missed. We find evidence of rare variant burdens that are independent of established common variant signals (ADIPOQ and adiponectin, P = 4.2 × 10<sup>-8</sup>; APOC3 and triglyceride levels, P = 1.5 ...[more]
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