Table 6.
Protocol | Pool | Total SNV | In PG SNV | Not in PG SNV | PG-specific SNV | Samples-specific SNV | Sensitivity (%) | Precision (%) | F-measure (%) | |
---|---|---|---|---|---|---|---|---|---|---|
NA12891 libraries | RSMU_exome | 1A + 1B | 52,878 | 52,875 | 2 | 2831 | 1775 | 99.976 | 99.995 | 99.986 |
RSMU_exome | 2A + 2B | 49,251 | 49,250 | 1 | 3733 | 1652 | 99.976 | 99.998 | 99.987 | |
MGI | 3A + 3B | 47,821 | 47,819 | 2 | 5165 | 1581 | 99.977 | 99.996 | 99.987 | |
Total | 49,983 | 49,981 | 2 | 3910 | 1669 | 99.977 | 99.996 | 99.987 |
Total SNV-number of bases detected as SNV. In PG SNV-number of bases detected as SNV and being SNV in reference PG. Not in PG SNV-number of bases detected as SNV and being indel in reference PG. PG-specific variations SNV-number of bases that are SNV in reference PG, but not called in our PG at all.