Table 1 Summary statistics for variants called using different sequencing technologies.

From: A flexible computational pipeline for research analyses of unsolved clinical exome cases

 

Ion Torrent

SOLID

Illumina

N samples

56

7

116

Mean ± stdev variants per sample

44,326 ± 6980

35,383 ± 6661

30,985 ± 4935

N genes

18637

18527

20270

N genes with an indela (=indelgene)

11,879

5344

9250

N genes with an SNVb (=SNVgene)

18,533

18,098

20,120

N indelsa

37,191

7800

19,032

N SNVsb

209,718

85,859

246,808

Indelsa/gene

2.00

0.42

0.94

Fold difference (0 = reference)

2.13

0.45

0.00

Indelsa/indelgene

3.13

1.46

2.06

Fold difference (0 = reference)

1.52

0.71

0.00

SNVsb/gene

11.25

4.63

12.18

Fold difference (0 = reference)

0.92

0.38

0.00

SNVsb/SNVgene

11.32

4.74

12.27

Fold difference (0 = reference)

0.92

0.39

0.00

  1. aIndel = insertion/deletion variant.
  2. bSNV = single nucleotide variants.