Predicting the clinical impact of human mutation with deep neural networks

Millions of human genomes and exomes have been sequenced, but their clinical applications remain limited due to the difficulty of distinguishing disease-causing mutations from benign genetic variation. Here we demonstrate that common missense variants in other primate species are largely clinically...

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Detalles Bibliográficos
Autores principales: Sundaram, Laksshman, Gao, Hong, Padigepati, Samskruthi Reddy, McRae, Jeremy F., Li, Yanjun, Kosmicki, Jack A., Fritzilas, Nondas, Hakenberg, Jörg, Dutta, Anindita, Shon, John, Xu, Jinbo, Batzoglou, Serafim, Li, Xiaolin, Farh, Kyle Kai-How
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237276/
https://www.ncbi.nlm.nih.gov/pubmed/30038395
http://dx.doi.org/10.1038/s41588-018-0167-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237276/
https://www.ncbi.nlm.nih.gov/pubmed/30038395
http://dx.doi.org/10.1038/s41588-018-0167-z

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