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Table 3 Summary of comparison of results from ToppGene with other gene prioritization applications

From: Improved human disease candidate gene prioritization using mouse phenotype

A. Random cross-validation

 

ENDEAVOUR

ToppGene

AUC (area under curve)

86.6

 

91.6

True positive rate/false positive rate

74/90

 

77/90

B. Locus region cross-validation

 

PROSPECTR

SUSPECTS

ToppGene

Percentage of top 5% ranked target genes

13% (20/155)

56% (87/155)

79% (118/150)

Average rank ratio of target gene

31.23%

12.93%

7.39%

C. Congenital Heart Disease (CHD) test case

   
 

SUSPECTS

ENDEAVOUR

ToppGene

Percentage of top 10% ranked target genes

32% (9/28)

50% (14/28)

64% (18/28)

Percentage of top 5% ranked target genes

18% (5/28)

14%(4/28)

25% (7/28)

Average rank ratio

25.03%

17.29%

17.35%

D. Diabetic Retinopathy (DR) test case

   
 

SUSPECTS

ENDEAVOUR

ToppGene

Percentage of top 10% ranked target genes

63% (17/27)

56% (15/27)

70% (19/27)

Percentage of top 5% ranked target genes

44% (12/27)

44% (12/27)

63% (17/27)

Average rank ratio

17.04%

13.31%

8.60%