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.