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Table 3 PSE-HMM precision and recall are computed for a simulated dataset with 10× depth of coverage

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

 

Real state

Heterozygous deletion

Diploid

Homozygous deletion

Tandem duplication

Sum

Precision

Recall

Predicted state

Heterozygous deletions

1,146

660

97

0

1,903

0.60

1.00

Diploid

2

23,560

2

89

23,653

1.00

0.95

Homozygous deletions

0

279

1,221

1

1,501

0.81

0.93

Tandem duplications

3

363

0

2,577

2,943

0.88

0.97

sum

1,151

24,862

1,320

2,667

30,000

  
  1. In columns 3 to 6, predicted state is shown versus the real state of the genomic segments, and number of segments is indicated in the corresponding cell. A total number of 30,000 genomic segments (4.5 million bp) are evaluated in this analysis
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BMC Bioinformatics

ISSN: 1471-2105

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