Fig. 5

Characterization of ~ 800,000 reference TRs analyzed by RExPRT. a TRs in the reference genome that are predicted pathogenic, and their distribution among exonic, intronic, and intergenic categories. b TRs in the reference genome that are predicted benign, and their distribution among exonic, intronic, and intergenic categories. c Odds ratios for pathogenic and benign TRs in their intersection with exonic, intronic, and intergenic regions of the genome, notably showing an enrichment of pathogenic TRs in exons. d Distribution of pathogenic and benign TRs in promoters, 3′UTRs, and 5′UTRs. e Odds ratios for pathogenic and benign TRs demonstrating an enrichment of pathogenic TRs in promoters, 3′UTRs, and 5′UTRs. f Distribution of pathogenic and benign TRs in open regulatory regions, TAD boundaries, RAD21 transcription factor binding sites, and as eTRs. g Odds ratios for pathogenic and benign TRs demonstrating an enrichment of pathogenic TRs in open regulatory regions, TAD boundaries, RAD21 transcription factor binding sites, and eTRs. h TRs in genic regions that are predicted to be pathogenic, and their tissue expression. i TRs in genic regions that are predicted to be benign, and their tissue expression. j Odds ratios for pathogenic and benign TRs in their tissue distributions demonstrating an enrichment for pathogenic TRs in nervous system tissues. k Distribution of pathogenic and benign TRs in OMIM disease genes, dominant disease genes, recessive disease genes, and ataxia genes. l Odds ratios for pathogenic and benign TRs demonstrating an enrichment of pathogenic TRs in OMIM disease genes, dominant genes, and ataxia genes. m Distribution of pathogenic and benign TRs with known repeat expansion disorder disease motifs, pure GC motifs, polyglutamine (polyQ) motifs, and polyalanine (polyA) motifs. n Odds ratios for pathogenic and benign TRs demonstrating an enrichment of pathogenic TRs with known repeat expansion disease motifs, pure GC motifs, polyQ motifs, and polyA motifs