Article

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

2018-05-02

Abstract excerpt

<h4>Background</h4> 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 involv...

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Literature Corpus work: be9239c5-318d-5f82-aee7-e9edd69ce944
DOI: 10.1101/311621

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