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. 2021 Jan 8;22:28. doi: 10.1186/s13059-020-02244-4

Table 4.

Small variant calls accuracy (in %) for the ONT reads from the Ashkenazim trio in the high confidence regions. Best results are highlighted

SNPs Indels
Precision Recall F1 Precision Recall F1
(a) Variants with quality scores below a threshold automatically computed by rtg-tools are filtered out
HG002 Raw 98.87 97.93 98.25 81.83 39.26 53.06
FMLRC 96.42 96.31 96.37 89.96 80.55 85.00
Ratatosk 97.84 99.10 98.47 92.10 89.19 90.62
HG003 Raw 99.16 98.85 99.00 84.00 47.62 60.78
FMLRC 97.73 97.56 97.64 92.78 85.38 88.93
Ratatosk 98.94 99.42 99.18 94.04 92.14 93.08
HG004 Raw 99.19 98.73 98.96 83.67 45.50 58.94
FMLRC 97.22 97.44 97.33 90.11 84.52 87.23
Ratatosk 98.56 99.46 99.01 92.65 91.38 92.01
(b) All variants with the FILTERfield set to PASS in the VCF files are used
HG002 Raw 85.32 99.69 91.94 11.60 72.96 20.02
FMLRC 78.08 99.57 87.52 60.20 93.47 73.23
Ratatosk 90.22 99.82 94.78 86.07 96.09 90.80
HG003 Raw 95.15 99.74 97.39 15.44 77.19 25.73
FMLRC 86.73 99.58 92.72 69.99 93.26 79.97
Ratatosk 95.94 99.80 97.83 88.38 95.83 91.95
HG004 Raw 93.34 99.80 96.47 14.83 75.98 24.81
FMLRC 84.08 99.68 91.21 66.87 94.60 78.35
Ratatosk 93.05 99.87 96.34 87.77 96.69 92.02