Table 2

Crohn's disease simulation results

Model

AUC

R2

T1

T5

T10


General population

0.708

0.054

7.39

4.21

3.23

P(DI|GI)

0.726

0.085

15.90

5.71

3.91

P(DI|GI, DS)

0.735

0.094

15.88

5.80

3.94

P(DI|GI, GS, DS)

Selected population (affected sibling)

P(DI|GI, DS)

0.628

0.042

71.25

60.25

53.75

P(DI|GI, GS, DS)

0.648

0.056

82.00

67.20

58.48


Performance characteristics for tests based on the 30 Crohn's disease variants. Index individuals and their siblings were simulated in the unselected and selected (family history positive/affected sibling) scenarios. The prediction models estimate risk based on the index genotype GI, and optionally sibling's phenotype DS and genotype GS. The metrics are the area under the ROC curve (AUC), the squared correlation between disease state and risk (R2) and the relative enrichment of cases in the top 1, 5 and 10% of individuals with the highest risk scores relative to the baseline risk for that population (T1, T5 and T10). See main text for details.

Ruderfer et al. Genome Medicine 2010 2:2   doi:10.1186/gm123

Open Data