Supplementary Figure 4: QQ plot from testing genes for enrichment of families with rare biallelic synonymous variants. | Nature Genetics

Supplementary Figure 4: QQ plot from testing genes for enrichment of families with rare biallelic synonymous variants.

From: Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Supplementary Figure 4

Comparison of QQ plots from four different tests of genotype enrichment for rare, biallelicly inherited synonymous genotypes. Black dots show the QQ plot from testing for enrichment using cumulative allele frequencies from the NFE subset of ExAC (shaded black), without correcting for population structure or autozygosity. Red dots show the QQ plot after correcting for population structure within the DDD probands by considering all possible combinations of counts among the four ancestral continental populations defined in ExAC. Blue dots show a QQ plot after correcting for gene-specific autozygosity in the probands. Gray dots show a QQ plot after correcting for both population structure and autozygosity; this plot is the closest match to the null expectation (shown as a dashed red line).

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