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. 2024 Jan 10;4(1):100687. doi: 10.1016/j.crmeth.2023.100687

Figure 6.

Figure 6

The application of SIGMA in variant interpretation

(A–C) The distribution of SIGMA scores in various subgroups of variants classified by the degree of sequence conservation (A), population frequency (B), and missense mutational constraint (C). The boxes show the median ± one quartile. Whiskers extend 1.5 times the interquartile range. The Mann-Whitney U test was performed between the SIGMA scores of benign variants and pathogenic variants. A two-sided p < 0.05 is considered a statistically significant difference.

(D) The heatmap shows a pathogenicity matrix for each type of amino acid substitution. The pathogenicity for each type of amino acid substitution was measured using mean SIGMA scores based on results from computational saturation mutagenesis in all disease-associated genes. The colors range from yellow (low pathogenicity) to black (high pathogenicity). ∗∗∗∗p < 0.0001. AA, amino acid.