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 | Â |
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% | ||||