Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

• Main Authors: Walsh R., Thomson K.L., Ware J.S., Funke B.H., Woodley J., McGuire K.J., Mazzarotto F., Blair E., Seller A., Taylor J.C., Minikel E.V., MacArthur D.G., Farrall M., Cook S.A., Watkins H.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: Nature Publishing Group 2019
• Subjects: Clinical genetics; Exome Aggregation Consortium; Inherited cardiomyopathy; Mendelian genetics; Variation interpretation
• Online Access: http://scholarbank.nus.edu.sg/handle/10635/150638
• Institution: National University of Singapore

10.1038/gim.2016.90