Table 2.
Summary of challenge top performers
Technology | Genomic region | Participant | Performance metrics |
F1 Rank |
||||
---|---|---|---|---|---|---|---|---|
F1 | Recall | Precision | All | Diff | MHC | |||
MULTI | alla | Sentieon | 0.999 | 0.999 | 0.999 | 1 | 4 | 1 |
MULTI | alla | Roche Sequencing Solutions | 0.999 | 0.999 | 0.999 | 1 | 1 | 7 |
MULTI | alla | The Genomics Team in Google Health | 0.999 | 0.999 | 0.999 | 1 | 2 | 4 |
MULTI | diff | Roche Sequencing Solutions | 0.994 | 0.992 | 0.996 | 1 | 1 | 7 |
MULTI | MHC | Sentieon | 0.998 | 0.998 | 0.998 | 1 | 4 | 1 |
ILLUMINA | all | DRAGEN | 0.997 | 0.996 | 0.998 | 1 | 1 | 5 |
ILLUMINA | diff | DRAGEN | 0.969 | 0.961 | 0.978 | 1 | 1 | 5 |
ILLUMINA | MHC | Seven Bridges Genomics | 0.992 | 0.989 | 0.996 | 6 | 9 | 1 |
PACBIO | all | The Genomics Team in Google Health | 0.998 | 0.998 | 0.998 | 1 | 2 | 4 |
PACBIO | diff | Sentieon | 0.993 | 0.991 | 0.994 | 4 | 1 | 1 |
PACBIO | MHC | Sentieon | 0.995 | 0.993 | 0.997 | 4 | 1 | 1 |
ONT | all | The UCSC CGL and Google Health | 0.965 | 0.947 | 0.984 | 1 | 1 | 2 |
ONT | diff | The UCSC CGL and Google Health | 0.983 | 0.976 | 0.988 | 1 | 1 | 2 |
ONT | MHC | Wang Genomics Lab | 0.972 | 0.964 | 0.980 | 3 | 3 | 1 |
One winner was selected for each technology/genomic region combination, and multiple winners were awarded in the case of ties. Winners were selected based on submission’s F1 score for the semi-blinded samples, HG003 and HG004 (harmonic mean of the parents’ F1 scores for combined SNVs and INDELs). Overall submission rank for all three genomic categories indicates submission overall performance: all, all benchmark regions; diff, difficult-to-map regions.
Tie.