Figure 3.
WES coverage for RHD and RHCE genes. (A) The median number of individual sequence reads are given for each polymorphism identified by exome sequencing. The sequence reads were aligned to the human reference sequence GRCh37, and median coverage was calculated for the entire SWiTCH cohort (n = 134). All exons (rectangles) had greater than 10× median coverage except RHD exon 8 (marked in red). (B) Normalized sequence read depth for RHCE exons 1, 2, and 3 (n = 54). Individuals with RHCE*Ce have a reduced ratio for exon 2 compared with exons 1 and 3 (orange bar). (C) Normalized sequence read depth for RHD, RHCE, and neighboring genes (n = 54). Genes with 2 copies are indicated as black bars, 1 copy as orange bars, and no copies as red bars.