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

BMC Bioinformatics

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

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

ISSN: 1471-2105