Algorithm for the identification of relevant novel variants in Cardiograph

Familial cardiopathies are a form of cardiovascular disease that is transmitted across generations within families. In most cases, these diseases are caused by novel variants, i.e., variants newly discovered and often specific to individual families. Being newly discovered, the data available about these variants in data sources is very limited. Consequently, geneticists specializing in familial cardiopathies struggle to determine whether a novel variant is truly responsible for a cardiopathy. Here we present an algorithm for prioritization of novel variants for familial cardiopathies that is compliant with the VarClaM conceptual model. This algorithm has been incorporated in CardioGraph (\url{https://genomics-hub.pros.dsic.upv.es:3090/home}), a tool designed to analyze all novel variants in a familial cardiopathy patient's VCF file and prioritize those with a higher likelihood of causing disease.