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Table 1 Performance of PennCNV-Seq regarding different number of copies for CNVs: deletions with 0 or 1 copy, and duplication with 3 or 4 copies, and loss-of-heterozygosity (LOH)

From: PennCNV in whole-genome sequencing data

No. of copies

Precision

Recall

0 copy (hom. deletion)

0.814

0.399

1 copy (het. deletion)

0.711

0.665

3 copy (het. duplication)

0.962

0.528

4 copy (hom. duplication)

0.732

0.416

Loss-of-heterozygosity (LOH)

1.000

0.650

  1. Precision is TP/(TP+FP) and Recall is TP/(TP+FN), where TP=True Positive, FP=False Positive and FN=False Negative
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BMC Bioinformatics

ISSN: 1471-2105

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