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 , Martin Oliver Pollard , Southam, Loz , Hatzikotoulas, Konstantinos , Aliki-Eleni Farmaki , Bjornland, Thea , Waples, Ryan , Appel, Emil Vr , Casalone, Elisabetta , Melloni, Giorgio , Kilian, Britt , Rayner, Nigel W , Ntalla, Ioanna , Kundu, Kousik , Walter, Klaudia , Danesh, John , Butterworth, Adam , Barroso, Ines , Tsafantakis, Emmanouil , Dedoussis, George , Moltke, Ida and Zeggini, Eleftheria
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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 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...
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
Martin Oliver Pollard
Southam, Loz
Hatzikotoulas, Konstantinos
Aliki-Eleni Farmaki
Bjornland, Thea
Waples, Ryan
Appel, Emil Vr
Casalone, Elisabetta
Melloni, Giorgio
Kilian, Britt
Rayner, Nigel W
Ntalla, Ioanna
Kundu, Kousik
Walter, Klaudia
Danesh, John
Butterworth, Adam
Barroso, Ines
Tsafantakis, Emmanouil
Dedoussis, George
Moltke, Ida
Zeggini, Eleftheria
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2068977422
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2068977422
Other Identifiers
ISSN
2692-8205
E-ISSN
2692-8205
DOI
10.1101/283481