Melissa A. Kelly

TL;DR: Clinical HCM genetic testing provides a definitive molecular diagnosis for many patients and provides cost savings to families, and an expanded gene panel encompassing more than 50 genes identified only a very small number of additional pathogenic variants beyond those identifiable in the original panels.

TL;DR: A refined estimate of the burden of adult onset, medically actionable incidental findings expected from exome sequencing is provided, challenges in variant classification are highlighted, and the need for a better curated variant interpretation knowledge base is demonstrated.

TL;DR: The data illustrate the utility of broad gene panels for genetically and clinically heterogeneous diseases but also highlight challenges as molecular diagnostics moves toward genome-wide testing.

TL;DR: These adapted rules provide increased specificity for use in MYH7-associated disorders in combination with expert review and clinical judgment and serve as a stepping stone for genes and disorders with similar genetic and clinical characteristics.

TL;DR: An overview of inherited cardiomyopathies with a focus on their genetic etiology and diagnostic testing in the postgenomic era is provided.