Identifying Mendelian disease genes with the Variant Effect Scoring Tool

  title={Identifying Mendelian disease genes with the Variant Effect Scoring Tool},
  author={Hannah Carter and Christopher Douville and Peter D. Stenson and David N. Cooper and Rachel Karchin},
  booktitle={BMC Genomics},
Whole exome sequencing studies identify hundreds to thousands of rare protein coding variants of ambiguous significance for human health. Computational tools are needed to accelerate the identification of specific variants and genes that contribute to human disease. We have developed the Variant Effect Scoring Tool (VEST), a supervised machine learning-based classifier, to prioritize rare missense variants with likely involvement in human disease. The VEST classifier training set comprised ~ 45… CONTINUE READING
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