Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

BACKGROUND:International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Genetic testing is also more likely informative in individual...

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Hlavní autoři: Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Li, N, Felkin, L, Ingold, N, Govind, R, Ahmad, M, Mazaika, E, Allouba, M, Zhang, X, De Marvao, A, Day, SM, Ashley, E, Colan, SD, Michels, M, Pereira, AC, Jacoby, D, Ho, CY, Thomson, KL, Watkins, H, Barton, PJR, Olivotto, I, Cook, SA, Ware, JS
Médium: Journal article
Jazyk:English
Vydáno: BioMed Central 2019

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