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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Figure 6

2D plots illustrating possible utility of RVIS in conjunction with a variant-level quantitative score (PolyPhen-2) across cohorts with proposed de novo mutation genetic architectures.

Plots reflect the single most damaging de novo missense mutation in individuals with at least one de novo missense mutation: [A] Controls (n = 247); [B] Severe ID (n = 67); [C] Epileptic Encephalopathies (n = 134); [D] Autism Spectrum Disorders (n = 412). Full lists of missense de novo mutations in the “hot zone” are available in Dataset S3, including loss of function SNV mutations (not plotted).

Figure 6