San Diego skyline and palm treeGeneticists across the globe met this past week for the American Society of Human Genetics annual meeting in San Diego.


A team from DNASTAR joined these researchers at the conference to present our Lasergene software, as well as some of the new features just released in Lasergene 12.1.


We presented a poster titled “A Next-Gen Sequencing Software Workflow for Gene Panel Validation Control” which is available for download.


In addition, we also held a workshop which discussed the National Institute of Standards and Technology (NIST) Genome in a Bottle (GIAB) consortium’s set of reference materials, how one of our customers is using these reference materials in conjunction with DNASTAR software in their work, and how DNASTAR tools support this overall workflow. Steve Lincoln, Senior Vice President of InVitae and member of the GIAB consortium, presented on the importance of high-confidence standard validation control datasets. These GIAB reference sets promise to improve the reliability of genetic assays for the clinical application of next-gen sequencing data, allowing laboratories to integrate performance measures directly within the workflow of their testing operations. Dr. Marjorie Beggs, Laboratory Manager of the Molecular Diagnostics Lab at Nephropath™, then discussed her collaboration with DNASTAR for software pipeline development aiming to create a clinical sequencing software package for their NGS nephrology gene panel. As the largest global renal biopsy laboratory, Nephropath™ currently uses DNASTAR software in conjunction with the NIST reference materials to demonstrate proficiency in their NGS pipeline for purposes of CAP/CLIA certification. Finally, Matthew Keyser, Next-Gen Application Scientist at DNASTAR, provided a live software demonstration of these new workflows in Lasergene, showcasing support of gene panel assembly and analysis as well as validation control.


We’d like to thank everyone who stopped by our booth and attended our workshop. If you missed us at ASHG, we will also be exhibiting and hosting a workshop at the Plant and Animal Genome conference in San Diego this January.