Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

• Main Authors: Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, D.P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: Springer Nature 2022
• Subjects: Brugada syndrome; cardiomyopathy; long QT syndrome; missense variant interpretation; pathogenicity prediction
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/232254
• Institution: National University of Singapore

10.1038/s41436-020-00972-3