Table 1.
Mean on-target read depth required for varying SNV detection sensitivity in targeted regions
| |
Total detection sensitivity |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| |
80% |
90% |
95% |
|||||||||
| Source | Het | Hom | Het | Hom | Het | Hom | ||||||
| HapMap |
11.1 ± |
0.9 |
5.3 ± |
1.2 |
17.2 ± |
0.9 |
8.3 ± |
1.1 |
19.7 ± |
0.9 |
9.0 ± |
1.1 |
| Kabuki |
14.9 ± |
1.9 |
7.6 ± |
1.6 |
27.7 ± |
6.1 |
12.2 ± |
2.0 |
34.5 ± |
8.4 |
18.0 ± |
4.9 |
| HW - Nimblegen |
15.9 ± |
2.5 |
9.3 ± |
1.6 |
24.5 ± |
1.9 |
9.3 ± |
1.6 |
31.1 ± |
2.7 |
15.9 ± |
2.5 |
| HW - Agilent | 18.4 ± | 1.6 | 9.5 ± | 0.8 | 36.5 ± | 3.5 | 15.2 ± | 2.8 | 45.6 ± | 4.2 | 21.7 ± | 2.8 |
HW = Human Genetics Unit/Wellcome Trust Sanger Institute.