Figure 3.

Depiction of the whole genome sequence reads using the Integrated Genome Viewer (IGV) of (a) affected sire, (b) carrier dam, and (c) affected offspring for the GDF7 variant. Grey horizontal bars represent individual reads, while grey vertical bars at the top of each sub figure represent depth of coverage. Notice in affected individuals (a,c), coverage is close to zero in the deleted region, while, in the carrier sequencing (b), coverage is approximately 50%. Additionally, in affected individuals (a,c), reads with high numbers of mismatches are indicative of the misidentification of an indel, and tend to occur near the ends of reads.