Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
About this item
Full title
Author / Creator
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 and Zeggini, Eleftheria
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_21e7f8a5a81c4b47a35814b4882daaea
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_21e7f8a5a81c4b47a35814b4882daaea
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-07070-8
