DeepPVP: phenotype-based prioritization of causative variants using deep learning

DeepPVP: phenotype-based prioritization of causative variants using deep learning

Abstract 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 sim...

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Bibliographic Details
Main Authors: Imane Boudellioua, Maxat Kulmanov, Paul N. Schofield, Georgios V. Gkoutos, Robert Hoehndorf
Format: Article
Language:English
Published: BMC 2019-02-01
Series:BMC Bioinformatics
Subjects:
Variant prioritization
Phenotype
Machine learning
Ontology
Online Access:http://link.springer.com/article/10.1186/s12859-019-2633-8

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http://link.springer.com/article/10.1186/s12859-019-2633-8

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