
ASC-enriched genes are associated with disease. Three genomic loci that have accumulated a significant excess of ASCs and also harbor disease-associated SNPs: (A) TMEM132; (B) OCA2; (C) POLN. Numerous ASCs overlap open chromatin regions (vertical red lines). ASC enrichment is computed from a moving window of 10 background ACs. (D) Fourteen of the top 20 genes enriched for flanking nonexonic ASCs are associated with human disease, of which 11 relate to the brain or eye (red).











