Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome

The profiling of genetic variants affecting splicing can give insight into disease mechanisms. Here, the authors develop a pipeline for discovery of variants affecting splicing (sQTLs) and with application to the GTEx dataset they generate a catalog of human sQTLs.

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Autores principales:	Diego Garrido-Martín, Beatrice Borsari, Miquel Calvo, Ferran Reverter, Roderic Guigó
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/b4a2e53b142947768a2d3537333c0f62
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spelling	oai:doaj.org-article:b4a2e53b142947768a2d3537333c0f622021-12-02T14:06:28ZIdentification and analysis of splicing quantitative trait loci across multiple tissues in the human genome10.1038/s41467-020-20578-22041-1723https://doaj.org/article/b4a2e53b142947768a2d3537333c0f622021-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-20578-2https://doaj.org/toc/2041-1723The profiling of genetic variants affecting splicing can give insight into disease mechanisms. Here, the authors develop a pipeline for discovery of variants affecting splicing (sQTLs) and with application to the GTEx dataset they generate a catalog of human sQTLs.Diego Garrido-MartínBeatrice BorsariMiquel CalvoFerran ReverterRoderic GuigóNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Diego Garrido-Martín Beatrice Borsari Miquel Calvo Ferran Reverter Roderic Guigó Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
description	The profiling of genetic variants affecting splicing can give insight into disease mechanisms. Here, the authors develop a pipeline for discovery of variants affecting splicing (sQTLs) and with application to the GTEx dataset they generate a catalog of human sQTLs.
format	article
author	Diego Garrido-Martín Beatrice Borsari Miquel Calvo Ferran Reverter Roderic Guigó
author_facet	Diego Garrido-Martín Beatrice Borsari Miquel Calvo Ferran Reverter Roderic Guigó
author_sort	Diego Garrido-Martín
title	Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
title_short	Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
title_full	Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
title_fullStr	Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
title_full_unstemmed	Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
title_sort	identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/b4a2e53b142947768a2d3537333c0f62
work_keys_str_mv	AT diegogarridomartin identificationandanalysisofsplicingquantitativetraitlociacrossmultipletissuesinthehumangenome AT beatriceborsari identificationandanalysisofsplicingquantitativetraitlociacrossmultipletissuesinthehumangenome AT miquelcalvo identificationandanalysisofsplicingquantitativetraitlociacrossmultipletissuesinthehumangenome AT ferranreverter identificationandanalysisofsplicingquantitativetraitlociacrossmultipletissuesinthehumangenome AT rodericguigo identificationandanalysisofsplicingquantitativetraitlociacrossmultipletissuesinthehumangenome
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Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome

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