Extended Data Fig. 5. Summary of effector gene prioritization results.

A two-step approach was used to identify candidate genes and prioritize potential effector genes at each loci. First, the nearest gene along with the top 3 genes scored using each of PoPs and V2G were highlighted as candidate genes for further evaluation. Second, of these genes, 5 additional features and methods were used to score the overall level of evidence supporting each putative gene by giving one point for any gene that was identified as best from each feature (maximum score of 8), and the highest scoring gene(s) at each locus being identified as the candidate gene(s). The 8 features were: PoPs, V2G, nearest, activity-by-contact (ABC)-model, transcriptome-wide association study (TWAS), colocalization, exonic coding variant, and reported Mendelian cause of cardiomyopathy or muscle disorder. Highlighted in red are genes with moderate or definitive evidence of being Mendelian causes of cardiomyopathy from ClinGen curation.