Supplementary Figure 2: The expected and observed fraction of genes with a de novo mutation in cases and controls for four gene sets of interest. | Nature Genetics

Supplementary Figure 2: The expected and observed fraction of genes with a de novo mutation in cases and controls for four gene sets of interest.

From: A framework for the interpretation of de novo mutation in human disease

Supplementary Figure 2

The expected and observed overlaps between gene sets of interest and the list of genes that contain de novo mutations in unaffected individuals, autism spectrum disorder (ASD) cases and intellectual disability (ID) cases. (a) Loss-of-function mutations. (b) Missense mutations. (c) Synonymous mutations mutations. *P < 0.01; **P < 10–4.

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