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Table 3 Number of predicted CNV events and correctly detected events for each method on adRP patient data

From: SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

Sample ID CNV SeqCNV CoNIFER CNVer CNVnator XHMM
UTAD034 PRPF31 entire gene deletion Y Y N N Na
UTAD069 PRPF31 exon 4–8 deletion Y Y N N Na
UTAD082 PRPF31 exon 4–13 deletion Y Na N N Na
UTAD411 PRPF31 entire gene deletion Y Y N N Na
UTAD611 PRPF31 exon 1–11 deletion Y Y N N Na
  1. Each element in the table indicates that whether copy number deletion for genomic region of gene PRPF31 in that sample is identified by the CNV method or not. ‘Na’ element indicates the method did not report any CNV for the sample. As we can see, SeqCNV really identified all the copy number deletion for all the 5 samples