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Table 2 Inferred DMD copy number variants in test samples

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

   geneCNV exon-level calls
Sample ID Coriell/MLPA status Targets Class Copy number Mean posterior Genomic Region
NA05117 Ex45DEL Ex45 Deletion 1 1.0 X:31986445-31986641
NA04099 Ex49-52DEL Ex49-52 Deletion 1 1.0 X:31747737-31854949
NA05159 Ex46-50DEL Ex46-50 Deletion 1 1.0 X:31838081-31950354
NA07692 Ex1-18DEL Ex1-18 Deletion 1 1.0 X:32536114-33229673
   Ex2-9 Duplication 3 0.9975 X:32715976-33038327
NA23087 Ex2-30DUP Ex11-22 Duplication 3 1.0 X:32490270-32662440
   Ex24-25 Duplication 3 1.0 X:32481545-32482826
   Ex27-30 Duplication 3 1.0 X:32429858-32466765
NA23094 Ex35-43DEL Ex35-43 Deletion 1 1.0 X:32305635-32383326
NA23099 Ex8-17DUP Ex8-17 Duplication 3 0.9376 X:32563265-32717420
   Ex5a Duplication 3 0.6521 X:3284140-328415141
NA04315 Ex44DEL Ex44 Deletion 1 1.0 X:32235022-32235190
   Ex2a Deletion 1 0.7831 X:33038245-33038327
  1. Mean posterior represents the average posterior probability for the copy number status indicated across the targets called.
  2. aIndicates an exon-level false positive result not consistent with MLPA CNV status. Mean posterior values for these exons are significantly lower than for other calls
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BMC Medical Genomics

ISSN: 1755-8794

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