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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Public Library of Science 2017
Ábhair:
Research Article
Rochtain Ar Líne: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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