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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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Dettagli Bibliografici
Pubblicato in:BMC Bioinformatics
Autori principali: Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N., Gkoutos, Georgios V., Hoehndorf, Robert
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6364462/
https://ncbi.nlm.nih.gov/pubmed/30727941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-019-2633-8
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