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

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 resequence 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:

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

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

About Thermo Fisher Scientific
Thermo Fisher Scientific Inc. is the world leader in serving science, with revenues of $18 billion and more than 55,000 employees globally. 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 premier brands – Thermo Scientific, Applied Biosystems, Invitrogen, 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.

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Thermo Fisher Scientific
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