Table 1.
Site type | Total site count | Thunder discordance rate (%) | HapSeq discordance rate (%) | Absolute discordance change (%) | Relative performance gain (%) |
---|---|---|---|---|---|
Total | 935 880 | 0.86 | 0.60 | 0.26 | 30 |
Heterozygous sites | 133 337 | 1.26 | 0.94 | 0.31 | 25 |
Homozygous sites | 802 543 | 0.78 | 0.55 | 0.23 | 29 |
Homozygous reference sites | 532 255 | 0.78 | 0.54 | 0.25 | 31 |
Homozygous alternative sites | 270 288 | 0.75 | 0.55 | 0.20 | 27 |
Sites not covered by jumping reads | 411 098 | 0.91 | 0.64 | 0.27 | 30 |
Sites covered by jumping reads from either left or right | 353 538 | 0.85 | 0.57 | 0.28 | 33 |
Sites covered by jumping reads from both left and right | 171 244 | 0.76 | 0.43 | 0.32 | 43 |
Sites with depth = 0 | 18 011 | 0.86 | 0.63 | 0.23 | 27 |
Sites with depth ≥ 4 | 535 763 | 0.67 | 0.50 | 0.18 | 26 |
Site with 0 < depth < 4 | 382 106 | 1.09 | 0.72 | 0.37 | 34 |
Sites with sequencing error | 39 589 | 6.16 | 4.62 | 1.54 | 25 |
Sites with MAF = 0% | 481 060 | 0.97 | 0.67 | 0.30 | 31 |
Sites with 0 < MAF ≤ 1% | 35 380 | 1.10 | 0.80 | 0.31 | 28 |
Sites with 1% < MAF ≤ 5% | 52 960 | 1.17 | 0.90 | 0.27 | 23 |
Sites with MAF >5% | 366 480 | 0.79 | 0.58 | 0.21 | 26 |
Site counts are over all PPSs over all 16 experiments. Absolute discordance change is the difference between the genotypic discordance rate of Thunder and that of HapSeq. Relative performance gain is the fraction of absolute discordance change over the discordance rate of Thunder.