Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case.

Abstract excerpt

BACKGROUND: Genetic findings influence clinical care of patients suspected of hereditary cardiac diseases. As additional knowledge arises over time, the classification of genetic variants may change. The labor cost associated with systematic manual reevaluation for reported variants is substantial. We applied an automated variant classifier for reevaluation of previous reported variants to assess how such tools...

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