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. Author manuscript; available in PMC: 2017 Oct 3.
Published in final edited form as: Nat Genet. 2017 Apr 3;49(5):806–810. doi: 10.1038/ng.3831

Figure 2.

Figure 2

Separation of disease genes and clinical cases by mode of inheritance. [a] The percentage of genes associated with exclusively autosomal dominant (AD, N=867) disorders versus autosomal recessive (AR, N=1,482) disorders as annotated by the Clinical Genomics Database (CGD) in each shet bin. Logarithmic bins are ordered from greatest to smallest shet values. [b] Overall, AD genes have significantly higher shet values than AR genes [Mann-Whitney U p-value 3.14×10−64]. [c] Similarly, in solved Mendelian clinical exome sequencing cases (Baylor)21, shet values can help discriminate between AR and AD disease genes, as annotated by clinical geneticists. [d] A shet value of 0.04 can be used as a simple classification threshold for AD genes with a PPV of 96%. [e] This finding is replicated in a separately ascertained sample from UCLA. Box plots range from 25th–75th percentile values and whiskers include 1.5 times the interquartile range.