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Fig. 1 | BMC Bioinformatics

Fig. 1

From: WEScover: selection between clinical whole exome sequencing and gene panel testing

Fig. 1

An illustration of breadth of coverage for a gene. It shows an example of a gene consisting of three exons (Exon 1, Exon 2, Exon 3). The short reads mapped to each exon are shown above the corresponding exons. Per-locus depth of coverage is equivalent to the count of short reads above each position in exon. Boxes ‘A’ and ‘B’ denote regions (positions) in the gene, where every locus has 3 or more reads. The breadth of coverage at 3 × is calculated as proportions of ‘A’ and ‘B’ within the gene (shown in the lower-left). Likewise, the breadth of coverage at 5 × is calculated as proportion of box ‘C’–every locus has 5 or more reads–in gene (shown in lower-right)

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