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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Detalhes bibliográficos
Publicado no:PLoS Comput Biol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5411092/
https://ncbi.nlm.nih.gov/pubmed/28414800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1005500
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