PuSH - Publication Server of Helmholtz Zentrum München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
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.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
12.353
2.912
11
15
Tags
Annotations
Special Publikation
Hide on homepage

Edit extra information
Edit own tags
Private
Edit own annotation
Private
Hide on publication lists
on hompage
Mark as special
publikation
Publication type Article: Journal article
Document type Scientific Article
Keywords Recent Positive Selection; Human-populations; Genetic-variation; Association; Variants; Sample; Apoc3; Expression; Framework; Inference
Language english
Publication Year 2018
HGF-reported in Year 2018
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
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-506700-001
DOI 10.1038/s41467-018-07070-8
WOS ID WOS:000449363900023
Scopus ID 85056110444
PubMed ID 30405126
Erfassungsdatum 2018-11-28
[➜Report correction]