Long-read HiFi genome sequencing SNV/indel (<50 bp) paired specimen concordance (GIAB high confidence)
| Genome-wide | RefSeq CDS | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Low complexity | Low mappability | Segmental duplications | All difficult regions | Not in any difficult region | All | Not in any difficult region | All | ||
| Blood vs. saliva | Count | 246,229 | 158,890 | 94,437 | 639,126 | 2,753,709 | 3,392,622 | 13,785 | 19,516 |
| Concordance | 99.40% | 99.54% | 99.34% | 99.60% | 99.94% | 99.88% | 99.94% | 99.84% | |
| Blood vs. swab | Count | 246,297 | 159,100 | 94,574 | 639,545 | 2,754,295 | 3,393,623 | 13,781 | 19,528 |
| Concordance | 99.52% | 99.57% | 99.37% | 99.66% | 99.96% | 99.90% | 99.94% | 99.85% | |
| Swab vs. saliva | Count | 246,297 | 159,100 | 94,574 | 639,545 | 2,754,295 | 3,393,623 | 13,781 | 19,528 |
| Concordance | 99.30% | 99.47% | 99.34% | 99.54% | 99.94% | 99.87% | 99.93% | 99.84% | |
[i] (RefSeq CDS) NCBI Reference Sequence gene coding sequence.