Among significant collapsing analysis signals, only 17% (125 of 724) of binary associations and 58% (446 of 767) of quantitative associations were detectable via ExWAS (Supplementary Table 13A). Conversely, most rare PTV ExWAS associations were detected via collapsing analyses, although the rates were lower for rare missense variants (Supplementary Table 13B). Thus, collapsing analyses can identify rare variant associations that are currently undetectable via single-variant-based approaches (Supplementary Table 14).
