Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population e...

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Detalles Bibliográficos
Autores principales: Ge, Xiaoyan, Gong, Henry, Dumas, Kevin, Litwin, Jessica, Phillips, Joanna J, Waisfisz, Quinten, Weiss, Marjan M, Hendriks, Yvonne, Stuurman, Kyra E, Nelson, Stanley F, Grody, Wayne W, Lee, Hane, Kwok, Pui-Yan, Shieh, Joseph T C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576364/
https://www.ncbi.nlm.nih.gov/pubmed/28868155
http://dx.doi.org/10.1038/npjgenmed.2016.36

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576364/
https://www.ncbi.nlm.nih.gov/pubmed/28868155
http://dx.doi.org/10.1038/npjgenmed.2016.36

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