Skip to main content
Fig. 3 | BMC Medical Genomics

Fig. 3

From: Explorations to improve the completeness of exome sequencing

Fig. 3

Potential false negative space due to lack of coverage. a Mean and median coverage based on exonic CCDS positions (total about 31.9 Mb) in 54 exomes of probands used for coverage analysis. b Fraction of exonic positions as a function of coverage. c-f Coverage was based on the minimum read depth that occurred in CCDS exons, grouped by exons (total about 190,000), first exons (total about 20,600) or genes (total about 18,400). g-i The minimum number of mapped reads at each position of known HGMD variants (classes “DM” and “DM?”) was determined by SAMtools and grouped by variant positions (total about 118,900) or genes (total about 4,000)

Back to article page