Population
57 expertly curated variants, 219 variants for comparison, and 327 cardiomyopathy cases
Comparison
CardioClassifier vs Generic annotation tool
Design
Other
Authors
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May enhance actionable variant detection in cardiomyopathy; leaves open need for prospective outcome validation before clinical adoption.
CardioClassifier is an effective, disease-specific decision-support tool that improves the identification of clinically actionable variants in inherited cardiac conditions compared to generic tools.
Whiffin et al. (2018) studied this question.
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