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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Figure 5

The percentage of de novo mutations occurring in the most intolerant quartile (25th percentile) across the severe ID, autistic, epileptic encephalopathy, and control siblings, for the different variant effect types.

LGD = Likely Gene Disrupting (including nonsense, coding indels, and splice acceptor/donor site mutations). *Taking the CCDS of RVIS genes, 38% reflects the total real estate occupied by the 25th percentile most intolerant genes. P-values reflect binomial exact tests where the probability of success is adjusted to 0.38, accounting for the gene sizes of the 25% most intolerant genes.

Figure 5