Panel+a/WGS–b | Panel–/WGS+ | Panel+/WGS+ | Panel–/WGS– | PPA [95% CI] | NPA [95% CI] | |
---|---|---|---|---|---|---|
All compiled | 76c | 201 | 29,475 | 45,847,148 | 99.74% [99.68–99.81%] | 100% [100–100%] |
P/LP variants only | 0 | 0 | 145 | 28,474,503 | 100% [100–100%] | 100% [100–100%] |
SNVs only | 23 | 6 | 28,710 | 45,848,108 | 99.92% [99.87–99.97%] | 100% [100–100%] |
Insertions only | 9 | 8 | 225 | 29,887,204 | 96.20% [94.30–98.00%] | 100% [100–100%] |
Deletions only | 33 | 12 | 540 | 42,170,158 | 94.24% [92.65–95.83%] | 100% [100–100%] |
Segmental duplications | 12 | 2 | 2119 | 38,466,267 | 99.44% [99.10–99.78%] | 100% [100–100%] |
Known pseudogenes | 9 | 74 | 1075 | 45,676,596 | 99.17% [98.60–99.73%] | 100% [100–100%] |
Low mappability regions | 18 | 12 | 1069 | 36,912,107 | 98.34% [97.84–98.85%] | 100% [100–100%] |
Low complexity regions | 24 | 69 | 956 | 38,072,735 | 97.55% [96.35–98.75%] | 100% [100–100%] |
Low GC regions | 6 | 12 | 197 | 14,792,575 | 97.04% [95.87–98.22%] | 100% [100–100%] |
High GC regions | 0 | 0 | 23 | 3,891,553 | 100% [100–100%] | 100% [100–100%] |
Heterozygous variants only | 75 | 147 | 18,295 | 45,858,382 | 99.59% [98.48–99.70%] | 100% [100–100%] |
Homozygous variants only | 1 | 83 | 11,180 | 45,865,561 | 99.99% [99.97–100%] | 100% [100–100%] |