Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Examination of predicted loss-of-function (pLOF) genetic variants allows direct identification of genes with therapeutic potential. Here, Emdin et al. perform association analysis for 3759 pLOF variants with 24 traits and highlight protective variants against cardiometabolic and immune phenotypes.

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Autores principales: Connor A. Emdin, Amit V. Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M. Zekavat, Akihiro Nomura, Diego Ardissino, James G. Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J. Bown, Nilesh J. Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H. Lichtman, Gail D’Onofrio, Jennifer Mattera, John A. Spertus, Wayne H.-H. Sheu, Kent D. Taylor, Bruce M. Psaty, Stephen S. Rich, Wendy Post, Jerome I. Rotter, Yii-Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
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Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/5b782df960c64245a2f0b6bdfadd7745
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spelling oai:doaj.org-article:5b782df960c64245a2f0b6bdfadd77452021-12-02T15:33:37ZAnalysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease10.1038/s41467-018-03911-82041-1723https://doaj.org/article/5b782df960c64245a2f0b6bdfadd77452018-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-03911-8https://doaj.org/toc/2041-1723Examination of predicted loss-of-function (pLOF) genetic variants allows direct identification of genes with therapeutic potential. Here, Emdin et al. perform association analysis for 3759 pLOF variants with 24 traits and highlight protective variants against cardiometabolic and immune phenotypes.Connor A. EmdinAmit V. KheraMark ChaffinDerek KlarinPradeep NatarajanKrishna AragamMary HaasAlexander BickSeyedeh M. ZekavatAkihiro NomuraDiego ArdissinoJames G. WilsonHeribert SchunkertRuth McPhersonHugh WatkinsRoberto ElosuaMatthew J. BownNilesh J. SamaniUsman BaberJeanette ErdmannNamrata GuptaJohn DaneshDaniel ChasmanPaul RidkerJoshua DennyLisa BastaracheJudith H. LichtmanGail D’OnofrioJennifer MatteraJohn A. SpertusWayne H.-H. SheuKent D. TaylorBruce M. PsatyStephen S. RichWendy PostJerome I. RotterYii-Der Ida ChenHarlan KrumholzDanish SaleheenStacey GabrielSekar KathiresanNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-8 (2018)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Connor A. Emdin
Amit V. Khera
Mark Chaffin
Derek Klarin
Pradeep Natarajan
Krishna Aragam
Mary Haas
Alexander Bick
Seyedeh M. Zekavat
Akihiro Nomura
Diego Ardissino
James G. Wilson
Heribert Schunkert
Ruth McPherson
Hugh Watkins
Roberto Elosua
Matthew J. Bown
Nilesh J. Samani
Usman Baber
Jeanette Erdmann
Namrata Gupta
John Danesh
Daniel Chasman
Paul Ridker
Joshua Denny
Lisa Bastarache
Judith H. Lichtman
Gail D’Onofrio
Jennifer Mattera
John A. Spertus
Wayne H.-H. Sheu
Kent D. Taylor
Bruce M. Psaty
Stephen S. Rich
Wendy Post
Jerome I. Rotter
Yii-Der Ida Chen
Harlan Krumholz
Danish Saleheen
Stacey Gabriel
Sekar Kathiresan
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
description Examination of predicted loss-of-function (pLOF) genetic variants allows direct identification of genes with therapeutic potential. Here, Emdin et al. perform association analysis for 3759 pLOF variants with 24 traits and highlight protective variants against cardiometabolic and immune phenotypes.
format article
author Connor A. Emdin
Amit V. Khera
Mark Chaffin
Derek Klarin
Pradeep Natarajan
Krishna Aragam
Mary Haas
Alexander Bick
Seyedeh M. Zekavat
Akihiro Nomura
Diego Ardissino
James G. Wilson
Heribert Schunkert
Ruth McPherson
Hugh Watkins
Roberto Elosua
Matthew J. Bown
Nilesh J. Samani
Usman Baber
Jeanette Erdmann
Namrata Gupta
John Danesh
Daniel Chasman
Paul Ridker
Joshua Denny
Lisa Bastarache
Judith H. Lichtman
Gail D’Onofrio
Jennifer Mattera
John A. Spertus
Wayne H.-H. Sheu
Kent D. Taylor
Bruce M. Psaty
Stephen S. Rich
Wendy Post
Jerome I. Rotter
Yii-Der Ida Chen
Harlan Krumholz
Danish Saleheen
Stacey Gabriel
Sekar Kathiresan
author_facet Connor A. Emdin
Amit V. Khera
Mark Chaffin
Derek Klarin
Pradeep Natarajan
Krishna Aragam
Mary Haas
Alexander Bick
Seyedeh M. Zekavat
Akihiro Nomura
Diego Ardissino
James G. Wilson
Heribert Schunkert
Ruth McPherson
Hugh Watkins
Roberto Elosua
Matthew J. Bown
Nilesh J. Samani
Usman Baber
Jeanette Erdmann
Namrata Gupta
John Danesh
Daniel Chasman
Paul Ridker
Joshua Denny
Lisa Bastarache
Judith H. Lichtman
Gail D’Onofrio
Jennifer Mattera
John A. Spertus
Wayne H.-H. Sheu
Kent D. Taylor
Bruce M. Psaty
Stephen S. Rich
Wendy Post
Jerome I. Rotter
Yii-Der Ida Chen
Harlan Krumholz
Danish Saleheen
Stacey Gabriel
Sekar Kathiresan
author_sort Connor A. Emdin
title Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
title_short Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
title_full Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
title_fullStr Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
title_full_unstemmed Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
title_sort analysis of predicted loss-of-function variants in uk biobank identifies variants protective for disease
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/5b782df960c64245a2f0b6bdfadd7745
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