Properties of human genes guided by their enrichment in rare and common variants

We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease‐causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein‐coding genes. Three novel sets of genes were ident...

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Detalles Bibliográficos
Autores principales: Alhuzimi, Eman, Leal, Luis G., Sternberg, Michael J.E., David, Alessia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838408/
https://www.ncbi.nlm.nih.gov/pubmed/29197136
http://dx.doi.org/10.1002/humu.23377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838408/
https://www.ncbi.nlm.nih.gov/pubmed/29197136
http://dx.doi.org/10.1002/humu.23377

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