New On-Demand Targeted Next-Generation Sequencing Panels for Inherited Disease Research Deliver User Customization Without High Upfront Cost

Clinical researchers studying germline disorders now have access to an extension of the highly referenced, Ion AmpliSeq next-generation sequencing (NGS) line of assays. The new Ion AmpliSeq On-Demand targeted sequencing panels for inherited disease research provide easy and practical design customization capabilities to lower upfront costs regardless of project size. Thermo Fisher Scientific will introduce the line, as well as several other new Ion Torrent NGS products, at the annual European Society of Human Genetics (ESHG) Conference in Copenhagen, Denmark, May 27-30, 2017.

A targeted NGS approach is the preferred method for researchers who study germline disorders in an effort to understand complex diseases that require analysis of multiple genes. Compared to the time-consuming and costly whole exome or whole genome sequencing, targeted NGS has become an especially beneficial approach in clinical research settings where a more practical, efficient and economical way to re-sequence tens-to-hundreds of specific gene targets is often required.

“Cost was a limiting factor for panels with a large number of amplicons. For researchers that need to change their gene content frequently, the lower price for oligos is really great,” said Pan Zhang, Ph.D., M.D., director, Sequencing and Microarray Center at Coriell Institute for Medical Research.

Adam Ameur, Ph.D., Bioinformatics Scientist, National Genomics Infrastructure, SciLifeLab at Uppsala University, added: “The majority of the projects we provide service for have only a few samples, so it is good to have a small pack size. Previously, we have been limited because of the cost, so this may open up other studies in which we look at larger genes with fewer samples.”

Ion AmpliSeq On-Demand Panels are custom designed by customers on the Ion AmpliSeq Designer tool (www.ampliseq.com) by selecting from a growing repository of highly optimized gene targets that are relevant in germline disorder research. The tool’s disease-gene database, which allows gene selection based on disease research area, has been informed by public repositories, such as the Medical Subject Headings (MeSH) database, and includes primer sets based on 1,000’s of proven designs that are also wet lab verified to guarantee performance. Panels are then ordered instantaneously in practical pack sizes that fit experiment needs and lower upfront costs.

“Targeted sequencing using customer-designed custom panels has proven to be a popular method for driving translational research, but for uncommon, complex diseases such as germline disorders, most labs do not have the number of samples to justify the significant investment of time and money,” said Joydeep Goswami, president of Clinical Next-Generation Sequencing and Oncology at Thermo Fisher Scientific. “By simplifying the way users can customize their content and pack delivery size, clinical researchers can focus on targets of interest that will drive greater discovery without the high upfront cost and risk of waste.”

Thermo Fisher will provide demonstrations of the new Ion AmpliSeq Designer Software for delegates who request them at ESHG 2017. The company is also hosting a workshop featuring talks from early access users of Ion AmpliSeq On-Demand Panels and other new technology from Thermo Fisher. The complementary workshop, titled New Products to Enable Discovery of De Novo and Germline Mutations, will take place Sunday, May 28 at 11:15 am CET in the Ballerup Room at the Bella Center Copenhagen (BCC). Workshop presenters include:

• Luca Quagliata, Ph.D., senior director, University Hospital Basel - Sanger sequencing in molecular pathology and genetics
• Adam Ameur, Ph.D., bioinformatics scientist, Uppsala University - Targeted next generation sequencing in inherited disease research: Example from Noonan syndrome
• Prof. Alessandra Murgia M.D., Ph.D., associate professor, University of Padova - NGS application to neuroscience disease research
• Doron Behar, M.D. Ph.D., CEO Gene by Gene - A pan-ethnic high throughput mutation and genomic variation detection using microarray technology
• Enrico Tagliafico, M.D., Ph.D., head of Center for Genome Research, Center for Genome Research, Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia - Implementation of BRCA Oncomine™ panel for germline and somatic variant analysis

Additional Ion Torrent NGS products to be highlighted at ESHG 2017 include:

• Ion 510™ Chip for Ion S5™ System – New sequencing chip that generates 2 million reads, and expands the throughput scalability of the Ion S5 systems using the automated Ion Chef System workflow.
• Ion ReproSeq™ PGS Kits – PGS is now enabled on the Ion S5 Systems for a scalable analysis of aneuploidy in a single or multiple cells from pre-implantation embryos.

For more information on the Ion AmpliSeq On-Demand Panels, stop by Thermo Fisher’s booth (#438) or visit www.thermofisher.com/ampliseqondemand. For more information on the workshop at ESHG, visit www.thermofisher.com/eshg17.

Ion AmpliSeq On-Demand Panels, Ion ReproSeq PGS Kits and Ion 510 Chip are For Research Use Only; not for use in diagnostic procedures.