DeepPVP: phenotype-based prioritization of causative variants using deep learning.
Journal:
BMC bioinformatics
Published Date:
Feb 6, 2019
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 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.