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Genetic effects on promoter usage are highly context-specific and contribute to complex traits

Genetic variants regulating RNA splicing and transcript usage have been implicated in both common and rare diseases. Although transcript usage quantitative trait loci (tuQTLs) have been mapped across multiple cell types and contexts, it is challenging to distinguish between the main molecular mechan...

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Detalles Bibliográficos
Autores principales: Alasoo, Kaur, Rodrigues, Julia, Danesh, John, Freitag, Daniel F, Paul, Dirk S, Gaffney, Daniel J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349408/
https://www.ncbi.nlm.nih.gov/pubmed/30618377
http://dx.doi.org/10.7554/eLife.41673