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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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Xehetasun bibliografikoak
Argitaratua izan da:PLoS Comput Biol
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2017
Gaiak:
Sarrera elektronikoa: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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