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Table 3 Software results comparison

From: Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model

 

geneCNV

exomeDepth

XHMM

CNVkit

Subject-level sensitivity

1.0

1.0

0.75

0.5

Exon-level sensitivity

0.961

0.974

0.922

0.857

Subject-level specificity

1.0

1.0

1.0

1.0

Exon-level specificity

0.998

1.0

1.0

1.0

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BMC Medical Genomics

ISSN: 1755-8794

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