Using Disease-Associated Coding Sequence Variation to Investigate Functional Compensation by Human Paralogous Proteins.

To compare the ratio of SNV densities and the ratio of evolutionary rates (this ratio was reversed for dSNV density), we conducted a bootstrap resampling test and found all differences to be highly significant because of very large sample sizes. 45 Predicting phenotypic severities of dSNVs For each dSNV, the evolutionary rate of the amino acid position was computed using the alignments of 46 species 44 and the impact score for EvoD prediction 46 was estimated by using myPEG. 46 The top 5% of dSNVs at ultra-conserved, well-conserved, and less-conserved positions were selected (EvoD impact scores of ≥88, ≥88, and ≥82, respectively).

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