Thermo Fisher Scientific has launched its new library preparation innovation, Ion AmpliSeq HD technology, for targeted next-generation sequencing (NGS) oncology and genetic research applications.

The technology provides flexibility to clinical researchers to custom design gene panels without sacrificing the ultra-high sensitivity that is needed to find low-frequency variants in cell-free DNA (cfDNA) and highly heterogeneous solid tumour samples.

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Thermo Fisher’s new Ion AmpliSeq HD technology enables custom design flexibility for single nucleotide variations (SNVs), small insertions/deletions (indels).

“The technology has also demonstrated application in inherited disease research, with potential use in infectious disease research, microbial studies, and gene expression analysis.”

It also enables flexibility for fusions and copy number variation (CNV) detection with a limit of detection (LOD) as low as ≤0.1 percent in blood samples.

Thermo Fisher Scientific clinical sequencing product management vice-president Andy Felton said: “As oncology research continues to evolve at a rapid pace, so has demand for advanced tools that can keep pace with the needs of our customers.

“We have built upon the knowledgebase from our market-leading AmpliSeq technology to now provide a solution that raises the bar for library prep by combining flexibility with ultra-high sensitivity.”

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The heightened sensitivity achieved with the new technology is enabled with molecular tags, while dual barcoding of the fragments of interest helps improve accuracy in fragment identification as well as sequencing using the Ion GeneStudio S5 Series instruments.

Ion AmpliSeq HD, which is similar to the original technology, also provides workflow improvements that reduce library preparation time to less than three hours.

The technology has also demonstrated application in inherited disease research, with potential use in infectious disease research, microbial studies, and gene expression analysis.