LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar

Michael T. Watkins, Wendy Kohlmann, Therese Berry, Neetha Sama, Cathryn Koptiuch, Shawn Rynearson, Karen Eilbeck. LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar. In AMIA 2022, American Medical Informatics Association Annual Symposium, Washington, DC, USA, November 5-9, 2022. AMIA, 2022. [doi]

Abstract

Abstract is missing.