Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
By
Arthur Gilly,
Daniel Suveges,
Karoline Kuchenbaecker,
Martin Pollard,
Lorraine Southam,
Konstantinos Hatzikotoulas,
Aliki-Eleni Farmaki,
Thea Bjornland,
Ryan Waples,
Emil V. R. Appel,
Elisabetta Casalone,
Giorgio Melloni,
Britt Kilian,
Nigel W Rayner,
Ioanna Ntalla,
Kousik Kundu,
Klaudia Walter,
John Danesh,
Adam S. Butterworth,
InĂªs Barroso,
Emmanouil Tsafantakis,
George V. Dedoussis,
Ida Moltke,
Eleftheria Zeggini
Posted 16 Mar 2018
bioRxiv DOI: 10.1101/283481
(published DOI: 10.1038/s41467-018-07070-8)
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1,457 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 overlapping with, and mostly independent of established common variant signals (ADIPOQ and adiponectin, P=4.2x10-8; APOC3 and triglyceride levels, P=1.58x10-26; GGT1 and gamma-glutamyltransferase, P=2.3x10-6; UGT1A9 and bilirubin, P=1.9x10-8), and identify replicating evidence for a burden associated with triglyceride levels in FAM189A (P=2.26x10-8), indicating a role for this gene in lipid metabolism.
Download data
- Downloaded 747 times
- Download rankings, all-time:
- Site-wide: 28,131
- In genetics: 1,422
- Year to date:
- Site-wide: 115,080
- Since beginning of last month:
- Site-wide: 107,751
Altmetric data
Downloads over time
Distribution of downloads per paper, site-wide
PanLingua
News
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!