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

Journal: Bioinformatics (Oxford, England)
Published Date: Aug 12, 2015

Abstract

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.

Authors

  • Agne Antanaviciute
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and.
  • Christopher M Watson
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, UK.
  • Sally M Harrison
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and.
  • Carolina Lascelles
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and.
  • Laura Crinnion
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, UK.
  • Alexander F Markham
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and.
  • David T Bonthron
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and.
  • Ian M Carr
    Section of Genetics, Institute of Biomedical and Clinical Sciences, School of Medicine, University of Leeds and.

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