Table 2 Pairwise comparison of sets with validated non-CNV exons and the GIAB high-confidence CNV set (svclassify): elements on the main diagonal indicate the set size, for other elements the denominator of a fraction is the number of shared exons in the sets and the numerator is the number of exons with the same state.

From: Benchmarking germline CNV calling tools from exome sequencing data

 

svclassify

hapmap

mccarroll2008

conrad2010

pilot

phase3

svclassify

184

     

hapmap

41/41

1970

    

mccarroll2008

41/43

1211/1282

3875

   

conrad2010

81/85

975/1228

1192/1514

8230

  

pilot

164/174

406/925

651/1276

1364/2431

28104

 

phase3

103/124

1355/1522

2272/2450

3142/3847

3808/6176

54137