Semantic networks for genome-wide CNV associated with AST and ALT in Korean cohorts

摘要: Copy number variation (CNV) is an emerging approach to study about human health and diseases. Liver-related biochemical tests (aspartate aminotransferase: AST, alanine ALT) are useful for diagnosing a patient with liver injury. We analyzed CNV-based GWAS of AST ALT in 407 Korean. Affymetrix Human 6.0 Array was used identify CNV, CNV segmentation performed using analysis software. Univariate linear regression the R package. identified 64 CNVs associated or ALT, screened 228 genes located within our CNVs. In this study, we focused on semantic networks disease knowledge integration This contained entities like gene, disease, pathway, chemical, drug, relationships between two gene-pathway, gene-disease, pathway-chemical, disease-pathway, chemical-drug. Application shown three clusters, including four diseases (hepatocellular carcinoma, neoplasm, cell adenoma, drug-induced injury), one pathway (hepatitis C pathway), seven drugs (acetaminophen, chlormezanone, stavudine, enflurane, isoniazid, mebendazole, nitisinone).