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Table 2 Summary of genetic variants identified through exome sequencing

From: Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

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%