OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

doi:10.1093/bioinformatics/btv473

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OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Bioinformatics (Oxford, England) - 1 Dec 2015

Antanaviciute Agne, Watson Christopher M, Harrison Sally M, Lascelles Carolina, Crinnion Laura, Markham Alexander F, Bonthron David T, Carr Ian M

Abstract excerpt

MOTIVATION: Exome sequencing has become a de facto standard method for Mendelian disease gene discovery in recent years, yet identifying disease-causing mutations among thousands of candidate variants remains a non-trivial task. RESULTS: Here we describe a new variant prioritization tool, OVA (ontology variant analysis), in which user-provided phenotypic information is exploited to infer deeper biological...

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OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

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