Figure 1
From: The promise and peril of genomic screening in the general population
Yield of potentially pathogenic variants using variant selection algorithms with varying sensitivity. Five variant selection algorithms (VSAs) with different degrees of sensitivity and specificity were constructed. VSA-1 is the least sensitive and most specific algorithm because it considers only a subset of variants that were previously defined as pathogenic. VSA-5 is the most sensitive but least specific, considering all rare truncating and missense variants (most of which would be considered “variants of uncertain significance”) to constitute a positive screen. These algorithms were applied to exome sequence data from 478 individuals in order to empirically evaluate the yield of possibly pathogenic variants in the 17 genes selected for population screening. The number of people who would screen positive per 1,000 individuals screened is displayed on the vertical axis, with each gene along the horizontal axis, for all variant selection algorithms.
