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Receiver operator curve characteristic calculation for the diagnostic performance of phenotype similarity scores, using pROC,21achieved an area under the curve (AUC) value of 0.82. The phenotype similarity threshold of 0.48 (blue) was determined using Youden’s index, and the rounded threshold of 0.5 (purple) is also shown, which optimizes the balance between sensitivity and specificity. However, a threshold of 0.3 (green) achieved 100% sensitivity.

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