Table 2

Summary of genetic variants identified through exome sequencing

Sample

ND02537

ND02538

ND02539

ND02540

Average


DNA source

PBMC

LCL

PBMC

LCL

PBMC

LCL

PBMC

LCL


Total Variants: SNPs and Indels (novel)

20238

(1354)

20366

(1380)

17770

(1222)

17912

(1242)

19306

(1412)

19317

(1449)

19895

(1872)

20032

(1518)

19354

(1431)


Shared between 2-paired samples

19932

17456

18879

19509

18944


Discordant variants

306

434

274

456

427

438

386

542

407



Total concordance rate

96.29%

95.82%

95.42%

95.24%

95.69%


Total SNPs

(novel)

18660

(485)

18794

(491)

16184

(388)

16316

(401)

17531

(467)

17597

(471)

18079

(617)

18216

(574)

17672

(486)


Shared between 2- paired samples

18433

15963

17214

17806

17354


Discordant SNPs

227

361

221

353

317

383

273

410

318


SNP concordance rate

96.81%

96.40%

95.93%

96.16%

96.33%



Total Indels

(novel)

1578

(869)

1572

(889)

1586

(834)

1596

(841)

1775

(945)

1720

(978)

1816

(955)

1835

(944)

1684

(906)


Shared between 2-paired samples

1499

1493

1665

1703

1571


Discordant indels

79

73

53

103

110

55

113

132

90


Indel Concordance rate

89.86%

89.55%

90.09%

85.61%

88.78%


Londin et al. BMC Genomics 2011 12:464   doi:10.1186/1471-2164-12-464

Open Data