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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

Fig. 3

The number of individuals heterozygous for a rare (MAF < 0.5%) potentially LOF mutation in a gene. Each data point represents a single gene, mutated in the aggregate population (n = 2504 individuals). Genes are grouped according to whether they are an essential gene, or are known to cause autosomal dominant, autosomal recessive or X-linked disease. Colored shapes indicate the centroids of each group. Abbreviations: nonsyn, nonsynonymous. LOF, loss-of-function. AD, autosomal dominant. AR, autosomal recessive. XL, X-linked

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