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Comprehensive Approach to Analyzing Rare Genetic Variants

Figure 1

Deleteriousness of variants detected by sequencing one-carbon folate metabolic pathway candidate genes.

For each gene, the number of variants from sequencing that are nonsynonymous, and then deemed deleterious by three different methods (SIFT [13], PMUT [14], or PolyPhen [15]) plotted by ranges of the variant's minor allele frequency. The SIFT designations are generally used here for our simulation studies (except those with common variants, where we used PMUT designations to have more genes with deleterious mutations for simulation purposes).

Figure 1