Skip to main content

Table 9 Percentage of variants, by type, that are called identically at the site level across different subsets of replicates

From: Analytical validation of whole exome and whole genome sequencing for clinical applications

NA12878 WES 1/7 2/7 3/7 4/7 5/7 6/7 7/7
SNV 3.20 1.37 1.18 1.28 1.42 2.69 88.85
Indel 10.25 4.60 2.62 2.33 2.51 3.71 73.99
NA18507 WES 1/5 2/5 3/5 4/5 5/5   
SNV 2.87 1.60 1.47 2.62 91.43   
Indel 7.61 3.57 2.96 3.70 82.17   
NA12878 WGS 1/6 2/6 3/6 4/6 5/6 6/6  
SNV 3.40 1.76 1.52 1.79 3.69 87.80  
Indel 20.20 9.89 6.11 5.17 7.07 51.60  
NA18507 WGS 1/3 2/3 3/3     
SNV 2.61 2.93 94.46     
Indel 20.01 13.10 66.89