From: A new massively parallel nanoball sequencing platform for whole exome research
Hiseq-1 | Hiseq-2 | Hiseq-3 | Hiseq-4 | BGISEQ-1 | BGISEQ-2 | BGISEQ-3 | BGISEQ-4 | ||
---|---|---|---|---|---|---|---|---|---|
SNV | total number a | 41,554 | 41,506 | 41,627 | 41,540 | 41,264 | 41,294 | 41,292 | 41,172 |
found in dbSNP(%) | 99.75 | 99.73 | 99.70 | 99.78 | 99.74 | 99.76 | 99.76 | 99.80 | |
homozygous | 15,741 | 15,723 | 15,723 | 15,758 | 15,671 | 15,666 | 15,692 | 15,642 | |
heterozygous | 25,813 | 25,783 | 25,904 | 25,782 | 25,593 | 25,628 | 25,600 | 25,530 | |
Ti/Tv | 2.56 | 2.57 | 2.56 | 2.56 | 2.56 | 2.56 | 2.56 | 2.56 | |
het/hom b | 1.64 | 1.64 | 1.65 | 1.64 | 1.63 | 1.64 | 1.63 | 1.63 | |
intronic variations c | 17,298 | 17,351 | 17,321 | 17,288 | 17,217 | 17,232 | 17,220 | 17,229 | |
exonic variations | 21,540 | 21,497 | 21,561 | 21,533 | 21,408 | 21,407 | 21,433 | 21,322 | |
coding variations | 19,353 | 19,332 | 19,354 | 19,364 | 19,269 | 19,273 | 19,291 | 19,210 | |
nonsynonmous | 9446 | 9439 | 9437 | 9466 | 9393 | 9391 | 9400 | 9343 | |
Ti/Tv on exome | 3.09 | 3.10 | 3.08 | 3.09 | 3.08 | 3.08 | 3.08 | 3.09 | |
het/hom on exome | 1.52 | 1.52 | 1.52 | 1.52 | 1.52 | 1.52 | 1.52 | 1.52 | |
indel | total number | 3461 | 3436 | 3470 | 3445 | 3503 | 3559 | 3506 | 3538 |
found in dbSNP(%) | 94.42 | 95.08 | 94.55 | 94.83 | 94.78 | 94.44 | 94.69 | 94.04 | |
homozygous | 1491 | 1491 | 1492 | 1502 | 1433 | 1444 | 1432 | 1420 | |
heterozygous | 1970 | 1945 | 1978 | 1943 | 2070 | 2115 | 2074 | 2118 | |
het/hom | 1.32 | 1.30 | 1.33 | 1.29 | 1.44 | 1.46 | 1.45 | 1.49 | |
intronic variations | 2493 | 2493 | 2518 | 2496 | 2558 | 2585 | 2553 | 2581 | |
exonic variations | 703 | 689 | 702 | 694 | 705 | 706 | 703 | 702 | |
coding variations | 460 | 465 | 459 | 464 | 473 | 477 | 468 | 473 | |
het/hom on exome | 1.12 | 1.11 | 1.11 | 1.11 | 1.17 | 1.21 | 1.14 | 1.17 |