Table 5

Mutation detection evaluation

Mutation detection using MutationFinder


Document (PMID)

Correct

Partially C.

Missing

Spurious

Strict

Lenient


P

R

F

P

R

F


10860737

200

0

0

2

99%

100%

100%

99%

100%

100%

12604240

90

0

0

1

99%

100%

99%

99%

100%

99%

12664592

24

0

0

0

100%

100%

100%

100%

100%

100%

12702265

46

0

11

14

77%

81%

79%

77%

81%

79%

12890481

92

0

0

0

100%

100%

100%

100%

100%

100%

12902331

173

0

7

5

97%

96%

97%

97%

96%

97%

15026177

142

0

5

0

100%

97%

98%

100%

97%

98%

17761677

49

0

0

0

100%

100%

100%

100%

100%

100%

19143837

154

0

3

0

100%

98%

99%

100%

98%

99%

9731776

2

0

0

0

100%

100%

100%

100%

100%

100%

14592457

170

0

138

3

98%

55%

71%

98%

55%

71%


Average

1142

0

164

25

98%

87%

92%

98%

87%

92%


Mutation detection using MutationTagger


Document (PMID)

Correct

Partially C.

Missing

Spurious

Strict

Lenient


P

R

F

P

R

F


10860737

191

0

9

5

97%

96%

96%

97%

96%

96%

12604240

89

0

1

1

99%

99%

99%

99%

99%

99%

12664592

24

0

0

0

100%

100%

100%

100%

100%

100%

12702265

41

0

16

0

100%

72%

84%

100%

72%

84%

12890481

91

0

1

0

100%

99%

99%

100%

99%

99%

12902331

171

1

9

4

98%

95%

96%

98%

95%

96%

15026177

146

0

1

1

99%

99%

99%

99%

99%

99%

17761677

49

0

0

0

100%

100%

100%

100%

100%

100%

19143837

148

0

9

0

100%

94%

97%

100%

94%

97%

9731776

2

0

0

0

100%

100%

100%

100%

100%

100%

14592457

297

0

11

0

100%

96%

98%

100%

96%

98%


Average

1249

0

57

11

99%

96%

97%

99%

96%

97%


Comparative evaluation of the mutation detection performance, using MutationFinder and OMM MutationTagger.

Naderi and Witte BMC Genomics 2012 13(Suppl 4):S10   doi:10.1186/1471-2164-13-S4-S10

Open Data