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Fig. 2 | Genome Medicine

Fig. 2

From: Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Fig. 2

Allele counts of BRCA1 and BRCA2 pathogenic and likely pathogenic variants. Histograms of the allele counts of pathogenic and likely pathogenic variants in the ExAC dataset for (a) BRCA1 and (b) BRCA2. x-axis: allele count; y-axis: number of unique sequence variants. The red portion represents pathogenic NMDpositive variants and the orange portion represents pathogenic NMDnegative variants (missense, intronic, in-frame indels, and truncations expected to avoid NMD)

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Genome Medicine

ISSN: 1756-994X

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