Fig. 6

Scatter-plot comparison of performance metrics of whole genome sequencing (rWGS) and GSA using 1KG as the benchmark dataset. A Scatter plots show sample-level performance metrics of rWGS and GSA relative to 1KG reference data. Plots are concordance (top left; blue), sensitivity (top right; orange), specificity (bottom left; green) and positive predictive value (PPV) (bottom right; maroon) respectively. Each dot represents a single sample’s performance metric value. B Density scatterplot of each GSA assay’s positive predictive value computed for GSA (y-axis) vs. rWGS (x-axis) using 1KG as the benchmark dataset. Each square represents PPV measured for GSA and rWGS relative to 1KG benchmark dataset, and the color indicates the number of assays within each square. The color gradient of each square ranges from 1 assay (dark purple) to 476,828 assays (yellow); therefore, the color on the scatterplot indicates the density of data-points in 2 dimensions