Novel Enzyme Enables Highest NGS Accuracy for Amplicon Sequencing

Hi-Q chemistry improves SNP detection and indel performance on Ion PGM

Thermo Fisher Scientific today introduced three new innovations to enhance genetic research: a novel enzyme intended to enhance single nucleotide polymorphism (SNP) and insertion and deletion (indel) performance on the Ion PGM System, a panel for genetically inherited deafness, and enhancements to its popular AmpliSeq Designer website. The new offerings were unveiled during the 2014 Annual Meeting of the American Society of Human Genetics (ASHG), being held October 18-22 at the San Diego Convention Center.

Promising initial findings from the new enzyme, contained in the Ion PGM Hi-Q Sequencing Kit, will be revealed today from 12:30-2 p.m. at Thermo Fisher’s Luncheon Education Workshop, “NGS Breakthroughs in Genetics Research with Ion Torrent Sequencing: From Research to the Clinic,” in Room 8 (Upper Level) of the San Diego Convention Center.

Internal tests compared the performance of 10 total sequencing runs on an Ion PGM using the Hi-Q Sequencing Kit against a competitor’s system. Both platforms ran the AcroMetrix Oncology Hotspot Control, which leverages a well-characterized genome background coupled with a broad range of synthetic COSMIC variants.

The tests indicated the Hi-Q Sequencing Kit’s chemistry demonstrated higher SNP accuracy in comparison to the other leading platform on the market. In addition, the research indicated that the Ion PGM system with the Hi-Q Kit:

•	Achieved a 43 percent reduction of indel errors in amplicon sequencing over the previous Ion PGM sequencing enzyme;
•	Enabled detection of defined known variants of 94.1 percent, compared to 91.3 percent for the competing platform;
•	Achieved a 99.8 percent positive predictive value (PPV), which is the ability to call a base correctly, versus the competition’s 98 percent.

“Our new Hi-Q enzyme reads through secondary structure more cleanly to provide a strong signal and higher accuracy,” said Mike Lelivelt, senior director of bioinformatic products for Thermo Fisher’s Life Sciences Solutions business. “Leveraging a controlled sample with broad truth of more than 500 known cancer variations allowed us to truly compare platform accuracy for targeted cancer sequencing.”

Thermo Fisher also introduced the Ion AmpliSeq Hearing Loss Research Panel, which enables researchers to target 63 genes associated with the condition that is known for its extreme genetic heterogeneity. Users can run between six to eight samples per Ion 318 chip to fit their research needs.

In addition, the Ion AmpliSeq Designer website has been expanded to enable custom amplicon designs of up to 375 base pairs. Ion AmpliSeq 375 is ideal for sequencing germline mutations associated with inherited disease from high-quality DNA. Custom amplicon designs continue to be available for up to 175 and 275 base pairs for varying sequencing applications.

The Ion PGM System, Ion PGM Hi-Q Sequencing Kit and Ion AmpliSeq panels are For Research Use Only; Not for use in diagnostic procedures.

About Thermo Fisher Scientific

Thermo Fisher Scientific Inc. is the world leader in serving science, with revenues of $17 billion and 50,000 employees in 50 countries. Our mission is to enable our customers to make the world healthier, cleaner and safer. We help our customers accelerate life sciences research, solve complex analytical challenges, improve patient diagnostics and increase laboratory productivity. Through our four premier brands – Thermo Scientific, Life Technologies, Fisher Scientific and Unity Lab Services – we offer an unmatched combination of innovative technologies, purchasing convenience and comprehensive support. For more information, please visit www.thermofisher.com.

Contact:
Mauricio Minotta
Carlsbad, CA, USA
760-929-2456
Mauricio.minotta@thermofisher.com