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

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 (ontol...

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Enregistré dans:
Détails bibliographiques
Publié dans:Bioinformatics
Auteurs principaux: Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2015
Sujets:
Original Papers
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4653395/
https://ncbi.nlm.nih.gov/pubmed/26272982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv473
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