Figure 2.

Increased detection rates with panel expansion. Each bar represents the breakdown of the three categories (labeled on x‐axis) for a given testing panel (y‐axis) relative to the total number of reported “variants detected” when the 96 disease gene set of the NGS panel is used for AJs (top) or SMJs (bottom), each of which is taken to be 100%. The genotyping panel of 36 diseases is described in Shi et al. (2017), and the genotyping panel of nine diseases includes CF plus the eight ACMG diseases (Gross et al., 2008). NGS panels of 48 and 58 are described in the text; both exclude SMA and FXS carriers that are detected by other means. Abbreviations: AJ, Ashkenazi Jewish; SMJ, Sephardi/Mizrahi Jewish