Extended Data Fig. 7: Comparison of WGS and WES for genetic testing.
From: Whole-genome sequencing of patients with rare diseases in a national health system
a–d, For each of four WES datasets—‘UK Biobank’, ‘INTERVAL’, ‘Columbia (IDTERPv1)’ and ‘Columbia (Roche)’—four groups of panels are shown, each of which corresponds to a different comparison of coverage characteristics, as follows. a, WGS versus WES mean coverage at 116,449 sites of diagnostic importance (Supplementary Information). The red axes show the threshold for clinical reporting and the numbers of variants in each quadrant are indicated. b, WGS versus WES coverage of the MDT-reported known (turquoise) and novel (salmon) SNVs and indels in autosomal diagnostic-grade genes. c, The percentage of samples with coverage below the threshold for clinical reporting, with variants ranked on the x-axis by their corresponding values on the y-axis within the WGS and WES datasets. The bar plots corresponding to WGS are superimposed on those corresponding to WES. The inset shows the mean percentage of individuals covered below 20× by WGS and WES in a magnified view. d, Vertical bars indicate the 1–99% coverage range in WGS (turquoise) and WES (salmon), with variants ranked by the mean coverage values within the WGS and WES data sets.
