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Gilly, A.* ; Suveges, D.* ; Kuchenbaecker, K.B.* ; Pollard, M.* ; Southam, L.* ; Hatzikotoulas, K. ; Farmaki, A.-E.* ; Bjornland, T.* ; Waples, R.* ; Appel, E.V.R.* ; Casalone, E.* ; Melloni, G.* ; Kilian, B.* ; Rayner, N.W.* ; Ntalla, I.* ; Kundu, K.* ; Walter, K.* ; Danesh, J.* ; Butterworth, A.S.* ; Barroso, I.* ; Tsafantakis, E.* ; Dedoussis, G.* ; Moltke, I.* ; Zeggini, E.

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

Nat. Commun. 9:4674 (2018)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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 x 10(-8); APOC3 and triglyceride levels, P = 1.5 x 10(-26)), and identify replicating evidence for a burden associated with triglyceride levels in FAM189B (P = 2.2 x 10(-8)), indicating a role for this gene in lipid metabolism.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Recent Positive Selection; Human-populations; Genetic-variation; Association; Variants; Sample; Apoc3; Expression; Framework; Inference
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 9, Issue: 1, Pages: , Article Number: 4674 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)