Article
Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation.
Circulation. Cardiovascular genetics - 1 Oct 2017
Furqan Aisha, Arscott Patricia, Girolami Francesca, Cirino Allison L, Michels Michelle, Day Sharlene M, Olivotto Iacopo, Ho Carolyn Y, Ashley Euan, Green Eric M, Caleshu Colleen
Abstract excerpt
BACKGROUND: Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be reduced is needed. METHODS AND RESULTS: We examined the frequency, causes, and resolution of discordant variant classifications in the Sarcomeric Human Cardiomyopathy...
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