Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of G...
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
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Author / Creator
DiscovEHR Collaboration , Regeneron Genetics Center , Genome Informatics , Translational and Analytical Genetics , Regeneron Personnel , RGC Management and Leadership Team , Sequencing and Lab Operations , Geisinger Personnel , Research Program Management , Clinical Informatics , Deaton, Aimee M. , Parker, Margaret M. , Ward, Lucas D. , Flynn-Carroll, Alexander O. , BonDurant, Lucas , Hinkle, Gregory , Akbari, Parsa , Lotta, Luca A. , Baras, Aris and Nioi, Paul
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 379,066 exome-sequenced participants in the UK Biobank. We identified associati...
Alternative Titles
Full title
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
Authors, Artists and Contributors
Author / Creator
Regeneron Genetics Center
Genome Informatics
Translational and Analytical Genetics
Regeneron Personnel
RGC Management and Leadership Team
Sequencing and Lab Operations
Geisinger Personnel
Research Program Management
Clinical Informatics
Deaton, Aimee M.
Parker, Margaret M.
Ward, Lucas D.
Flynn-Carroll, Alexander O.
BonDurant, Lucas
Hinkle, Gregory
Akbari, Parsa
Lotta, Luca A.
Baras, Aris
Nioi, Paul
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3eba2ec7d59241e2a1ea8ba7d9c77d4a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3eba2ec7d59241e2a1ea8ba7d9c77d4a
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-021-99091-5
