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

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Abstract

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Cite this paper

@article{watkins2022,
  title = {LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar},
  author = {Michael T. Watkins and Wendy Kohlmann and Therese Berry and Neetha Sama and Cathryn Koptiuch and Shawn Rynearson and Karen Eilbeck},
  journal = {AMIA},
  year = {2022},
  month = {Jan},
}