Article

CardioClassifier – demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

2017-08-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Internationally-adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ( www.cardioclassifier.org ), a semi-automated decision-support tool for inherited cardiac conditions (ICCs). <h4>Methods</h4> CardioClassifier integrates data retri...

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Literature Corpus work: f3ad9ed7-4d28-572d-9769-19e919d5acc8
DOI: 10.1101/180109

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