Semantic prioritization of novel causative genomic variants

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of fea...

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Detalles Bibliográficos
Autores principales: Boudellioua, Imane, Mahamad Razali, Rozaimi B., Kulmanov, Maxat, Hashish, Yasmeen, Bajic, Vladimir B., Goncalves-Serra, Eva, Schoenmakers, Nadia, Gkoutos, Georgios V., Schofield, Paul N., Hoehndorf, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411092/
https://www.ncbi.nlm.nih.gov/pubmed/28414800
http://dx.doi.org/10.1371/journal.pcbi.1005500

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411092/
https://www.ncbi.nlm.nih.gov/pubmed/28414800
http://dx.doi.org/10.1371/journal.pcbi.1005500

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