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Comparison of Family History and SNPs for Predicting Risk of Complex Disease

Figure 5

Worked example.

(A) In the family structure shown, the shaded box represents the index individual, whose risk of developing the disease we wish to predict. (B) There are possible combinations of disease status for the individuals in the family. Using the liability threshold model, we compute the probability of each combination; in this example, we assume and . (C) From the joint distribution, we can then compute the disease risk of the index individual for any given family history pattern, as well as the likelihood of particular family history patterns among cases and controls. (D) These quantities then allow us to construct the receiver operating characteristic (ROC) curve for a complete family history-based classifier, from which sensitivity, specificity, PPV, NPV, and AUC can be computed.

doi: https://doi.org/10.1371/journal.pgen.1002973.g005