eCase Study Videos

Affecting approximately 5 percent of the world’s population, alpha thalassemia is the most common monogenic inherited disorder. Located in tandem, the HBA1 and HBA2 genes have identical coding sequences and this homology presents special challenges for NGS technologies commonly used in expanded carrier screening research.

In this on-demand webinar, Dr. Colin Davidson of Thermo Fisher Scientific presents case examples to illustrate how the Ion Torrent CarrierSeq ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.

In this 20-minute eCase Study you will hear first-hand how Dr. Jeff SoRelle and team, of the University of Texas Southwestern Medical Center, developed and validated a COVID-19 RT PCR assay. Dr. SoRelle shares his decision to bring this development in house, how he chose reference materials, and how he managed to scale up and provide rapid turnaround.

In this 15-minute on-demand presentation, learn how Accuplex SARS-CoV-2 Reference Materials are meeting the immediate need for validating the performance of coronavirus assays. The focus of this presentation is on the technology, the importance of early detection, and helping every lab accelerate go-live-launch.