Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Coding variants represent many of the strongest associations between genotype and phenotype, however they exhibit inter-individual differences in effect, termed variable penetrance. Here, we study how cis-regulatory variation modifies the penetrance of coding variants. Using functional genomic and g...

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Detalles Bibliográficos
Autores principales: Castel, Stephane E., Cervera, Alejandra, Mohammadi, Pejman, Aguet, François, Reverter, Ferran, Wolman, Aaron, Guigo, Roderic, Iossifov, Ivan, Vasileva, Ana, Lappalainen, Tuuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119105/
https://www.ncbi.nlm.nih.gov/pubmed/30127527
http://dx.doi.org/10.1038/s41588-018-0192-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119105/
https://www.ncbi.nlm.nih.gov/pubmed/30127527
http://dx.doi.org/10.1038/s41588-018-0192-y

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