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Table 4 Precision and recall values of PSE-HMM are compared to m-HMM, Pindel, CNV-seq, and Delly

From: PSE-HMM: genome-wide CNV detection from NGS data using an HMM with Position-Specific Emission probabilities

 

Coverage

1×

5×

10×

Precision mean/std

Recall mean/std

F-measure

Precision mean/std

Recall mean/std

F-measure

Precision mean/std

Recall mean/std

F-measure

Duplications

PSE-HMM

0.91/0.03

0.79/0.02

0.85

0.92/0.02

0.95/0.01

0.93

0.88/0.01

0.97/0.02

0.92

m-HMM

0.95/0.01

0.21/0.02

0.35

1.00/0.02

0.64/0.02

0.78

1.00/0.01

0.71/0.01

0.83

Pindel

1.00/0.00

0.11/0.04

0.20

1.00/0.00

0.67/0.03

0.80

1.00/0.01

0.81/0.03

0.90

CNV-seq

0.55/0.03

0.41/0.03

0.47

0.98/0.00

0.54/0.03

0.70

0.99/0.00

0.57/0.03

0.72

Delly

1.00/0.00

0.80/0.05

0.89

1.00/0.00

0.99/0.05

0.99

1.00/0.00

1.00/0.00

1.00

Deletions

PSE-HMM (heterozygous)

0.43/0.03

0.37/0.03

0.40

0.54/0.04

0.97/0.01

0.69

0.60/0.02

1.00/0.02

0.75

PSE-HMM (homozygous)

0.20/0.03

0.92/0.05

0.33

0.73/0.03

0.97/0.02

0.83

0.81/0.02

0.93/0.03

0.87

PSE-HMM (hetero + homo)a

0.31/0.03

0.86/0.02

0.46

0.63/0.02

0.99/0.01

0.77

0.72/0.03

1.00/0.03

0.84

m-HMM (heterozygous)

0.67/0.02

0.16/0.04

0.25

0.93/0.03

0.88/0.03

0.91

0.93/0.03

0.92/0.02

0.93

m-HMM (homozygous)

0.95/0.02

0.65/0.02

0.77

0.99/0.02

0.62/0.02

0.77

0.99/0.01

0.62/0.03

0.77

m-HMM (hetero + homo)a

0.93/0.02

0.43/0.03

0.59

0.99/0.01

0.78/0.02

0.87

0.99/0.02

0.80/0.03

0.88

Pindel

0.93/0.15

0.02/0.01

0.04

0.91/0.03

0.36/0.02

0.52

0.87/0.06

0.45/0.05

0.59

CNV-seq

0.72/0.05

0.75/0.02

0.73

0.98/0.00

0.91/0.01

0.94

0.98/0.00

0.95/0.01

0.96

Delly

0.98/0.00

0.32/0.04

0.48

0.99/0.00

0.48/0.03

0.65

0.99/0.00

0.49/0.04

0.66

Diploid

PSE-HMM

0.96/0.00

0.79/0.01

0.87

0.99/0.00

0.93/0.00

0.96

1.00/0.00

0.96/0.00

0.98

m-HMM

0.87/0.01

1.00/0.01

0.93

0.94/0.00

1.00/0.00

0.97

0.95/0.00

1.00/0.00

0.97

Pindel

0.82/0.01

1.00/0.00

0.90

0.90/0.01

1.00/0.00

0.95

0.93/0.01

1.00/0.00

0.96

CNV-seq

0.91/0.00

0.93/0.00

0.92

0.94/0.00

1.00/0.00

0.97

0.95/0.00

1.00/0.00

0.97

Delly

0.91/0.01

1.00/0.00

0.95

0.94/0.01

1.00/0.00

0.97

0.94/0.01

1.00/0.00

0.97

  1. For each method, the average and standard deviation of the precision (recall) values over five different runs of the whole simulation study are given in each cell. For each state i.e. tandem duplication, deletion and diploid, evaluations are done for three different coverage values i.e. 1×, 5×, and 10×. The implanted CNVs are of length 1 kb, 1.5 kb, 2 kb, 2.5 kb, …, 4.5 kb, and 5 kb
  2. a hetero + homo stands for copy loss