3.4 Comparison of NeoEXOME with other NBS panels
To find out the difference between our NeoEXOME panel and other NGS
panels and WGS gene-disease lists worldwide, we compared our panel with
other NBS panels in terms of gene-disease system and disease onset age.
The gene-diseases information of “BabySeq”23, “NC
NEXUS”24, and “NESTS”36 were
collected. There were 414 common genes in BabySeq and our panel (Fig
5A), most of which are endocrine and metabolism system disease-genes.
Nervous, ENT (ear, nose, and throat) and syndromes system disease-genes
were higher in the BabySeq panel. Also, the BabySeq panel included
gene-disease pairs of digestive system and tumor, which was not covered
in our panel. There were 268 common genes in NC NEXUS and our panel (Fig
5B). ENT, respiratory, and syndromes system disease-genes were higher in
the NC NEXUS panel. Similar to the BabySeq panel, NC NEXUS also covered
gene-disease pairs of digestive system and tumor. In addition, we
compared our panel with the “NESTS” panel for Chinese newborns
recently reported by Dr. Li. There were 191 common genes in the two
panels (Fig 5C). Deafness-related genes dominated the gene list of the
NESTS panel. Genes related to the respiratory system were higher in the
NESTS panel. 2 genes MUTYH and APC that were related to
multiple colorectal adenomas, and adenomatous polyposis coli were also
included in the NESTS panel. However, the NESTS panel did not include
genes of DUOX2 , UGT1A1 , FLG, and ATP7B ,
which showed a high positive rate in our NeoEXOME panel. In general, the
gene-disease association list designed by different projects focused on
varied disease catalog and have their own characteristics.