Customized Theragen PMRA chip : design history and application examples

Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collaborating with the genome sequencing projects and genome-wide association study projects. Through those researches, we found a novel Korean variants and associated diseases. Based on the research results, Theragen Bio developed the genetic testing service using OpenArray platform of Quantstudio 12K. Quantstudio revealed the fast, accurate genotype results and researcher friendly softwares enhanced the further developments of genetic testing service. However, the increase of GWAS results gave us some limitation of the service marker selection and high cost. In the reason, we considered Microarray Axiom platforms, because the platform has the robustness and flexibility. Asian PMRA array has several merits for our service, we make a choice of using the chip contents. Theragen PMRA chip was added 50,000 SNP loci to Asian PMRA array as the baseline microarray contents. Customized 50,000 SNPs are including 5,000 commercial markers that used in the theragen genetic testing service, 5,000 research finding markers of theragen, and 10,000 rare and hereditary cancer mutation markers, and 30,000 Korean genome specific rare markers. Finally, Theragen PMRA chip is possible to use the genetic testing service of predictive SNPs and diagnostic mutations, Asian population genome-wide association study and meta-analysis, and functional candidate marker researches. Theragen PMRA chip is applied to Hellogene, GeneStyle genetic testing service, GWAS of clinical and academic collaboration. In future, we will use this chip to the newborn screening, CNV research, pharmacogenomics, rare disease diagnostics, and so on. In addition, the chip contents will be optimized by the experiences of each SNP genotype qualities.