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Fig. 6 | Genome Biology

Fig. 6

From: CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Fig. 6

Identifying which of a set of individuals are most at risk for Crohn’s disease, given exome data. Examples were selected on the basis of ranking by ROC AUC. A ROC curves for two selected methods. Statistically significant but relatively low ROC areas are obtained. B Distributions of disease prediction scores for individuals with the disease (red) and without (green) for the method with the highest AUC (kernel density representation of the data). C Local positive likelihood ratio (\({{\text{lr}}}^{+}\)) as a function of prediction score for the method with the highest AUC. D Relative risk of disease (log2 scale), compared to that in the general population as a function of prediction score. Individuals with the lowest risk scores have approximately 1/3 the average population risk, while those with the highest scores have risk exceeding fourfold the average, a 12-fold total range. Depending on the disease, identifying individuals with higher than threefold the average risk may be sufficient for clinical action

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