A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human

Thousands of human disease-associated single nucleotide polymorphisms (SNPs) lie in the non-coding genome, but only a handful have been demonstrated to affect gene expression and human biology. We computationally identified risk-associated SNPs in deeply conserved non-exonic elements (CNEs) potentia...

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Detalles Bibliográficos
Autores principales: Madelaine, Romain, Notwell, James H, Skariah, Gemini, Halluin, Caroline, Chen, Charles C, Bejerano, Gill, Mourrain, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909433/
https://www.ncbi.nlm.nih.gov/pubmed/29518216
http://dx.doi.org/10.1093/nar/gky166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909433/
https://www.ncbi.nlm.nih.gov/pubmed/29518216
http://dx.doi.org/10.1093/nar/gky166

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