Skip to main content

Table 2 Number of SNPs and Mendelian error rates using Varscan, SAMtools and SeqGene

From: SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data

  

VarScan

SAMtools

SeqGene

  

Father

Mother

Daughter

Father

Mother

Daughter

Father

Mother

Daughter

 

After SNP Filter

26458

19814

20788

39657

24384

26971

23522

22776

24097

Coverage

> 10

After Family Filter

16037

(235)

14392

(145)

15048

(194)

15775

(375)

13174

(324)

13556

(458)

15678

(131)

15541

(128)

15809

(191)

 

Mendelian Error Rate (%)

1.5

1.0

1.3

2.3

2.4

3.6

0.8

0.8

1.2

 

After SNP Filter

23444

16317

17639

27814

15797

18060

18805

16354

17889

Coverage

> 20

After Family Filter

13992

(124)

12594

(93)

13244

(147)

9745

(90)

8522

(93)

8674

(140)

12001

(63)

11887

(53)

12202

(89)

 

Mendelian Error Rate (%)

0.9

0.7

1.1

0.9

1.1

1.6

0.5

0.4

0.7