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Table 4 Software results comparison (limited gene panel)

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

0.875

0.75

0.5

Exon-level sensitivity

0.961

0.623

0.883

0.857

Subject-level specificity

1.0

1.0

1.0

1.0

Exon-level specificity

0.998

1.0

1.0

1.0