Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.

For published scores that do not produce Bonferroni-significant binary annotations, we report results for the top 5% of variants (the average optimized proportion among Bonferroni-significant binary annotations); we made this choice because (in contrast to published Mendelian missense scores) for many other published scores the most significant τ * was not even weakly significant.

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We determined that annotations derived from boosted pathogenicity scores were even more informative for common disease, resulting in 64 marginally significant annotations and 11 jointly significant annotations and implying that Mendelian disease variants and common disease variants share similar properties.

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