To identify genetic variants in archival human samples, researchers need a powerful NGS platform that can accommodate input DNA and RNA that is often low quality and/or low quantity. This challenge is compounded the diversity of frequently co-existing complex variants underlying somatic changes. Consequently, robust NGS assays capable of identifying single nucleotide variants (SNV), small indels, fusions, and copy number variation (CNV) in a single workflow are required. Molecular pathology research lab are now adopting the Thermo Genexus NGS platform for routine analysis of archival, formalin-fixed, paraffin embedded (FFPE) human tissue samples. Compared to earlier NGS-based assays, the Thermo Genexus offers several important advantages. The amount of input DNA and RNA is lower than other assays permitting testing of a wider range of samples. Sequencing costs are reduced due to lower reagent costs and less hands-on time. Turnaround times are significantly faster. The Genexus assays are sensitive for detecting challenging variants such indels and copy number variation, as well as sequencing G-C rich DNA. Examples several classes of genetic variants detected in archival, human FFPE samples using the Genexus are provided to demonstrate the performance of the Genexus NGS system.
1. Demonstrate detection of copy number variation and single nucleotide variants in archival human tissue research samples
2. Discuss germline EGFR T790M in hereditary non-small cell lung cancer