Fig. 1From: Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathyThe 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 variantBack to article page