DeepPVP: phenotype-based prioritization of causative variants using deep learning

BACKGROUND: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathogenicity prediction is combined with a semantic similarity...

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Detalles Bibliográficos
Autores principales: Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N., Gkoutos, Georgios V., Hoehndorf, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364462/
https://www.ncbi.nlm.nih.gov/pubmed/30727941
http://dx.doi.org/10.1186/s12859-019-2633-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364462/
https://www.ncbi.nlm.nih.gov/pubmed/30727941
http://dx.doi.org/10.1186/s12859-019-2633-8

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