Assigning distal genomic enhancers to cardiac-disease causing genes. Homo sapiens

The Activity-by-contact algorithm 3 tackles this issue by multiplying measures of enhancer activity and enhancer-promoter 3D contacts, and thence predicts a weighted enhancer-gene connections in a given cell type based on chromatin state map. Different enhancer loci corresponding to a gene are scored, scores greater than 0.05 are predicted to have a regulatory effect on the target genes, and higher scores indicate stronger contribution to the gene. Evidence suggests that ABC outperforms other models of predicting target genes of enhancers including H3K27ac HiChIP, RNA PolII ChIA-PET, TargetFinder, and others. Hence, to annotate and prioritise a global catalogue of cardiac disease-causing gene enhancers, we applied ABC algorithm to datasets of human whole left ventricles.