Thermo Fisher Scientific, a U.S. multinational biotechnology product development company, announced the launch of its Ion AmpliSeq HD technology, the latest next-generation library preparation innovation that, for the first time, provides clinical researchers with the flexibility to custom design gene panels without sacrificing the ultra-high sensitivity required to find low-frequency variants in cell-free DNA (cfDNA) and highly heterogeneous solid tumor samples.
The new product for targeted next-generation sequencing (NGS) oncology and genetic research applications is being featured at the 2018 European Society of Human Genetics (ESHG) conference in Milan, Italy, and later this month at the 2018 European Association for Cancer Research (EACR) conference in Amsterdam, Netherlands.
Until now, clinical researchers have relied on fixed NGS gene panels to carry out applications that require ultra-high sensitivity capability, but the ability to combine panel customization with exceptional sensitivity has long been sought after by customers, particularly for liquid biopsy applications. This has led Thermo Fisher to develop Ion AmpliSeq HD, a new library prep technology that enables custom design flexibility for single nucleotide variations (SNVs), small insertions/deletions (indels), fusions and copy number variation (CNV) detection with a limit of detection (LOD) as low as ≤0.1 percent in blood samples.
The heightened sensitivity achieved with Ion AmpliSeq HD is enabled with proprietary molecular tags, while dual barcoding of the fragments of interest helps enhance accuracy in fragment identification and sequencing using the Ion GeneStudio S5 Series instruments. The technology also provides workflow improvements that reduce library preparation time to less than three hours.