Alex Lindell, Senior Director at Oxford Nanopore Technologies in the Clinical division, facilitated the Showcase on “Carrier Screening” at the Nanopore Community Meeting in Boston. Bradley Hall from Asuragen US spoke about developing an eleven-gene panel for traditionally difficult-to-detect variants. The kit is a carrier screening panel using Asuragen’s technologies. Next, Anne-Sophie Lebre from CHU Reims in France explained that they beta-tested the kit with 200+ patient samples. They noted that bioinformatics analyses are performed at high speed. Hall described why some gene variants are difficult to detect/address with short-read sequencing approaches. With long-read sequencing, analysis of these variants is greatly facilitated. Lebre said the nanopore-based method complemented other approaches. Hall emphasized that most of the genes in this panel typically need to be analyzed with two or more orthogonal assays. Lebre said the panel has very good accuracy and is cheaper than other approaches. They were clear that nanopore is not used for diagnosis, yet it helps inform approaches that may have been more challenging with traditional exome sequencing.
