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% | ||||