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Fig. 1 | Genome Medicine

Fig. 1

From: Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Fig. 1

The use of etiological fractions to evaluate variant classification methods. Illustration of how EFs can be used to evaluate methods for distinguishing pathogenic from benign variants (for a hypothetical gene). The overall EF of 0.85 [1] is based on a case frequency of 9.5% and a reference frequency of 1.5%. The aim of variant classification methods is to fully distinguish between pathogenic variants (producing an EF of 1.0 with frequency equal to case excess [2]) and benign variants (producing an EF of 0 with frequency equal to population reference, here ExAC [3]). We propose that an EF of 0.95 would be required to indicate a likely pathogenic variant

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