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

Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it to analyze the GTEx dataset, generating a comprehensive catalog of sQTLs in th...

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Detalles Bibliográficos
Autores principales: Garrido-Martín, Diego, Borsari, Beatrice, Calvo, Miquel, Reverter, Ferran, Guigó, Roderic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851174/
https://www.ncbi.nlm.nih.gov/pubmed/33526779
http://dx.doi.org/10.1038/s41467-020-20578-2

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