DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

Table 1 Summary of the dataset used for retrospective and clinical analyses

Gene panel name	Capture method	Number of target genes	Probes (or amplicons)	Probe coverage size	Average number of probes per exon	Clinical use	Number of samples
IMD_HYB	Hybridization (HiSeq)	259	19210	982,657 bps	5.7	Newborn screening	30^a (cell line) 36 (clinical)
IMD_PCR	PCR (Ion S5)	259	9072 (3 pools)	1,216,913 bps	2.7	Newborn screening	14 (cell line) 20 (clinical)
IMD_V1	PCR (Ion PGM)	97	2054 (2 pools)	338,961 bps	1.8	Newborn screening	178 (clinical)

IMD inherited metabolism disorder, HYB hybridization-based capture approach, PCR polymerase chain reaction-based capture approach, bps base pairs
^a27 unique cell line. Total 30 samples were sequenced because two cell lines were generated 3 times respectively

ISSN: 1471-2105