Fig. 3.

Number of exonic and non-coding mutations identified per sample. a Exonic and b Non-coding mutations identified per sample tested in the validation study, shown with ranges in a box-and-whisker plot. Distributions are also shown for variants grouped by pathogenicity classification: pathogenic and likely pathogenic = Class_4_5, VUS = Class 3, likely benign and benign = Class_1_2. Pathogenicity classifications are a combination of known pathogenicity determinations for the expected variants, and pathogenicity estimates for incidental variants