Fig. 6
From: Achieving high-sensitivity for clinical applications using augmented exome sequencing
Coverage gaps in Retinitis Pigmentosa and Cystic Fibrosis genes are recovered with augmented exome approaches. Chromosomal position (x-axis) is plotted against coverage depth (y-axis) averaged over multiple 1000 Genome samples, with the clinical coverage threshold (≥20×) represented by a horizontal black line. Blue areas represent mean-depth of coverage across coding and non-coding regions using the SS (light blue), and SSCR (dark blue) exomes. Areas in green represent coverage gaps ‘filled in’ by ACE. These include areas with known pathogenic variants in high GC rich areas in the RPGR gene associated with retinitis pigmentosa (a); or non-coding regions of the CFTR gene (b)