Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

Ethical approval was not required, as this study employed reanalyses of published data in the public domain. For each syndrome (LQTS, BrS and HCM), we identified a set of genes known to harbour pathogenic variants for that syndrome and, for each…

Source: Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity