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Table 5 Mendelian concordance (in %) of small variants called on the ONT reads of 4 children from Icelandic trios with respect to the variant calls from their father (F), mother (M), and both parents (F+M). All variants with the FILTER field set to PASS in the VCF files are used by rtg-tools. Best results are highlighted

From: Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly

 

Raw

FMLRC

Ratatosk

 

F

M

F+M

F

M

F+M

F

M

F+M

I1

99.24

99.28

95.86

99.18

99.21

97.11

99.42

99.42

98.06

I2

99.28

99.22

96.22

99.24

99.22

97.33

99.45

99.44

97.82

I3

99.31

99.33

96.14

99.05

99.13

96.91

98.86

98.25

96.05

I4

99.19

99.38

96.76

99.19

99.33

97.33

99.46

99.50

98.28