Webinar Overview

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 labs are now adopting the Ion Torrent Genexus NGS system for routine analysis of archival, formalin-fixed, paraffin embedded (FFPE) human tissue samples. Compared to earlier NGS-based assays, the Genexus System 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.

Alexander Craig Mackinnon, MD, PhD | University of Alabama at Birmingham

Alexander “Craig” Mackinnon Jr., M.D., Ph.D., is the inaugural director of the Division of Genomics Diagnostics and Bioinformatics in the Department of Pathology, School of Medicine at the University of Alabama at Birmingham. Mackinnon is leading ongoing efforts to establish the Precision Diagnostic Laboratory at UAB. A board-certified anatomical and molecular genetic pathologist, Mackinnon joined UAB after serving as associate professor in the Department of Pathology at the Medical College of Wisconsin. Mackinnon directed the Clinical and Translational Research Laboratory (CTRL) at MCW, where he provided interpretation related to the pathology of tumor samples. The lab developed multiple Next Generation Sequencing-based panels targeting variants in both DNA and RNA. He has experience designing and validating targeted, custom DNA and RNA sequencing assays. Mackinnon’s lab interpreted a range of tests, from sequencing data to digital quantitative imaging for immunohistochemical analysis. Mackinnon is a member of the College of American Pathologists and the American Society of Clinical Pathology, where he served on the Molecular Pathology Section, Pathologist Recertification Individualized Self-Assessment Examination Committee.

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