Resident Stanford Medicine MENLO PARK, California, United States
Some of the most important carrier screening genes (e.g. SMN1, HBA1/2, CYP21A2, F8) are also the most challenging and intractable using short-read NGS. This requires the maintenance of multiple testing workflows, decreasing operational efficiency while still not providing robust coverage of these targets. In this workshop, we will showcase the design and performance of the AmplideX® Carrier Plus Kit, combining Amplidex chemistry with the Oxford Nanopore® platform to identify the most challenging genetic alterations like CNVs, large inversions, and pseudogenes using a consolidated workflow. Additionally, you will learn about the software included with the kit to enhance data analysis and provide valuable insights. Lastly, we will feature a presentation from an external early access laboratory outlining their experience with the assay, highlighting performance and ease-of-use.
