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Chunk #31 — Discussion — AUC and accuracy of genetic profiles

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The genetic interpretation of area under the ROC curve in genomic profiling.
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AUC is a useful measure because of its independence of the numbers of diseased and diseased individuals tested, but we advocate the reporting of an estimate of the proportion of the known genetic variance on the liability scale () or the proportion of sibling risk accounted for by the profile and we provide a method to do this using the estimated AUC, disease prevalence and heritability on the liability scale or sibling recurrence risk (equation 5). An AUC of 0.75 can imply anything from 0.10 to 0.74 of the genetic variance explained by the genomic profile for the complex diseases listed in Table 1. The correlation has long been the benchmark in non-human genetics of accuracy of genetic risk predictors. can be calculated from three measurable statistics, disease prevalence, sibling recurrence risk and AUC of the profile (using equations (1) and (4)). In this way, estimates of AUC can provide direct estimates of the proportion of ‘missing heritability’ [28] which takes into account the interdependence of identified associated variants.