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

• Main Authors: 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, S.M., Ashley, E., Colan, S.D., Michels, M., Pereira, A.C., Jacoby, D., Ho, C.Y., Thomson, K.L., Watkins, H., Barton, P.J.R., Olivotto, I., Cook, S.A., Ware, J.S.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: BioMed Central Ltd. 2021
• Subjects: ACMG/AMP guidelines; Hypertrophic cardiomyopathy; Mendelian genetics; Variant interpretation
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/212331
• Institution: National University of Singapore

10.1186/s13073-019-0616-z