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. 2022 Apr 27;2(5):100129. doi: 10.1016/j.xgen.2022.100129

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.

a

Tie.