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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Detalles Bibliográficos
Autores principales: Diego Garrido-Martín, Beatrice Borsari, Miquel Calvo, Ferran Reverter, Roderic Guigó
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/b4a2e53b142947768a2d3537333c0f62
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Descripción
Sumario: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.