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. 2018 Oct 16;19:381. doi: 10.1186/s12859-018-2409-6

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 30a (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

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