Figure 1

Per base analysis of variants and regions across the MYOC gene. Per base analysis of read depth, conservation scores, repetitive region context and allele frequency across the POAG patient data set (n = 358) for MYOC. (A) Gene structure of MYOC. (B) Per base depth for samples of batch 1, red; batch 2, green; batch 3, black; batch 4 orange;. (C) PhastCons 20 way mammals conservation score (20 mammals). (D) Phylop scores (20 mammals), showing measure of conservation (green) and acceleration (red). (E) Regions identified as repetitive regions by RepeatMasker (orange). (F) Allele frequency for each base’s detected alternate allele across 358 POAG samples (left base position). (G) Allele frequency of SNPs in 1000 Genomes Project (European) for corresponding alternate alleles identified in F.