Table 7. Composite (intra- and inter-run) precision analysis by sample type (n=replicate pairs).
Sample type | Concordant variants | Discrepant variants | Discrepant artifacts | Cause(s) of discrepancy |
---|---|---|---|---|
Unfixed (n=14) | 41 | 1* | 2 | *Single nucleotide variants (SNV) threshold [1]; intronic homopolymer [1]; indel mapping [1] |
Fixed (n=16) | 34 | 0 | 17 | Intronic homopolymer [17] |