Utilizing the Genexus System to Detect Complex Genetic Variants in Human Tissue Specimens

Presented By: Craig Mackinnon

Speaker Biography: 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

Webinar: Utilizing the Genexus System to Detect Complex Genetic Variants in Human Tissue Specimens

Webinar Abstract: 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.