Fig. 1
From: Investigating the dark-side of the genome: a barrier to human disease variant discovery?
Examples of two genes affected by dark regions overlapping their CDS, showing modified browser views of SHANK3 and C4B from GnomAD Browser of human genetic variation (showing the average read depth of both whole exome and whole genome sequencing data); SCHEMA Browser of SCZ associated rare variants (and for SHANK3, the Autism Sequencing Consortium Browser of rare variants). Note for each browser the conspicuous absence of any genetic variants (pathogenic or benign) from low read-depth (dark regions) from exome and whole genome sequencing data