JUL 02, 2020 2:00 PM SGT

Customized Theragen PMRA chip : design history and application examples

Speaker

Abstract

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.


Show Resources
You May Also Like
FEB 15, 2023 7:00 AM PST
FEB 15, 2023 7:00 AM PST
Date: February 15, 2023 Time: 7:00am (PST), 10:00pm (EST), 4:00pm (CET) While not all microscopy samples can fluoresce, all can scatter light, and this scattered light can be imaged. This ha...
AUG 24, 2022 7:00 AM PDT
AUG 24, 2022 7:00 AM PDT
Date: August 24, 2022 Time: 7:00am (PDT), 10:00pm (EDT), 4:00pm (CEST) Light field microscopy was first introduced in 2006, and allows users to capture the 4D light field within the microsco...
OCT 11, 2022 8:00 AM PDT
C.E. CREDITS
OCT 11, 2022 8:00 AM PDT
Date: October 11, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CEST) Multiomic profiling of cell populations at single-cell resolution is revolutionizing scientists’ understanding o...
OCT 13, 2022 9:00 AM +08
OCT 13, 2022 9:00 AM +08
First Broadcast: Date: October 12, 2022 Time: 8:00am PDT, 11:00am EDT Second Broadcast: Date: October 12, 2022 Time: 9:00am SGT The new Embedded CryoSPARC Live, now fully integrated with t...
AUG 16, 2022 11:00 AM PDT
AUG 16, 2022 11:00 AM PDT
Date: August 16, 2022 Time: 11:00am (PDT), 2:00pm (EDT), 8:00pm (CEST) Understanding genomic variation in the context of cancer is paramount to identifying disease drivers and informing pers...
AUG 10, 2022 10:00 AM PDT
AUG 10, 2022 10:00 AM PDT
Date: August 10, 2022 Time: 10:00am PDT, 1:00pm EDT The global pandemic has increased focus and scrutiny on molecular diagnostic assay development, resulting in a need for assays that provid...
Loading Comments...
Show Resources
Attendees