CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation
Nicola Whiffin, Roddy Walsh, Risha Govind, Matthew Edwards, Mian Ahmad, Xiaolei Zhang, Upasana Tayal, Rachel J. Buchan, William Midwinter, Alicja Wilk, Hanna Najgebauer, Catherine Francis, Sam Wilkinson, Thomas Monk, Laura Brett, , Stuart A. Cook
CardioClassifier is a decision-support tool for inherited cardiac conditions that improves variant interpretation by integrating disease-specific annotations and case data.
Genetics in Medicine · Jan 25, 2018Peer-reviewedGenomics