Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features

While genome-wide association studies have yielded thousands of trait-associated loci, identifying causal variants remains challenging. Here, the authors perform seven genomics assays in various cell types to prioritize genetic variants in the TNFAIP3 locus, and report high-priority variants within...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: John P. Ray, Carl G. de Boer, Charles P. Fulco, Caleb A. Lareau, Masahiro Kanai, Jacob C. Ulirsch, Ryan Tewhey, Leif S. Ludwig, Steven K. Reilly, Drew T. Bergman, Jesse M. Engreitz, Robbyn Issner, Hilary K. Finucane, Eric S. Lander, Aviv Regev, Nir Hacohen
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
Q
Acceso en línea:https://doaj.org/article/1ebe14a757924ee7b684604e682e0db0
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:1ebe14a757924ee7b684604e682e0db0
record_format dspace
spelling oai:doaj.org-article:1ebe14a757924ee7b684604e682e0db02021-12-02T17:32:41ZPrioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features10.1038/s41467-020-15022-42041-1723https://doaj.org/article/1ebe14a757924ee7b684604e682e0db02020-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-15022-4https://doaj.org/toc/2041-1723While genome-wide association studies have yielded thousands of trait-associated loci, identifying causal variants remains challenging. Here, the authors perform seven genomics assays in various cell types to prioritize genetic variants in the TNFAIP3 locus, and report high-priority variants within disease-associated haplotypes.John P. RayCarl G. de BoerCharles P. FulcoCaleb A. LareauMasahiro KanaiJacob C. UlirschRyan TewheyLeif S. LudwigSteven K. ReillyDrew T. BergmanJesse M. EngreitzRobbyn IssnerHilary K. FinucaneEric S. LanderAviv RegevNir HacohenNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
John P. Ray
Carl G. de Boer
Charles P. Fulco
Caleb A. Lareau
Masahiro Kanai
Jacob C. Ulirsch
Ryan Tewhey
Leif S. Ludwig
Steven K. Reilly
Drew T. Bergman
Jesse M. Engreitz
Robbyn Issner
Hilary K. Finucane
Eric S. Lander
Aviv Regev
Nir Hacohen
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
description While genome-wide association studies have yielded thousands of trait-associated loci, identifying causal variants remains challenging. Here, the authors perform seven genomics assays in various cell types to prioritize genetic variants in the TNFAIP3 locus, and report high-priority variants within disease-associated haplotypes.
format article
author John P. Ray
Carl G. de Boer
Charles P. Fulco
Caleb A. Lareau
Masahiro Kanai
Jacob C. Ulirsch
Ryan Tewhey
Leif S. Ludwig
Steven K. Reilly
Drew T. Bergman
Jesse M. Engreitz
Robbyn Issner
Hilary K. Finucane
Eric S. Lander
Aviv Regev
Nir Hacohen
author_facet John P. Ray
Carl G. de Boer
Charles P. Fulco
Caleb A. Lareau
Masahiro Kanai
Jacob C. Ulirsch
Ryan Tewhey
Leif S. Ludwig
Steven K. Reilly
Drew T. Bergman
Jesse M. Engreitz
Robbyn Issner
Hilary K. Finucane
Eric S. Lander
Aviv Regev
Nir Hacohen
author_sort John P. Ray
title Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
title_short Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
title_full Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
title_fullStr Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
title_full_unstemmed Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
title_sort prioritizing disease and trait causal variants at the tnfaip3 locus using functional and genomic features
publisher Nature Portfolio
publishDate 2020
url https://doaj.org/article/1ebe14a757924ee7b684604e682e0db0
work_keys_str_mv AT johnpray prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT carlgdeboer prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT charlespfulco prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT calebalareau prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT masahirokanai prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT jacobculirsch prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT ryantewhey prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT leifsludwig prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT stevenkreilly prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT drewtbergman prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT jessemengreitz prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT robbynissner prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT hilarykfinucane prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT ericslander prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT avivregev prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
AT nirhacohen prioritizingdiseaseandtraitcausalvariantsatthetnfaip3locususingfunctionalandgenomicfeatures
_version_ 1718380172784173056