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

​I. Boudellioua, M. Kulmanov, P.N. Schofield
BMC Bioinformatics. 20(1):65, (2019)

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

Keywords

Variant prioritization, Phenotype, Machine learning, Ontology

Abstract

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 measure to prioritize not only variants that are likely to be dysfunctional but those that are likely involved in the pathogenesis of a patient’s phenotype.

Code

DOI: 10.1186/s12859-019-2633-8

Sources

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