Sarah Statt presented at the Nanopore Community Meeting 2021 on “AmplideX PCR and nanopore sequencing deepens analysis and simplifies workflows for carrier screening.” Statt is an R&D Senior Manager at Asurgen, a Bio-Techne Brand. They spoke about the technologies needed for carrier screening. The company created AmplideX that includes long-range PCR and long-read sequencing to produce one workflow. They wanted to enrich for targets of interest and sequence them. Statt noted that “more than half of the top ten carrier screening genes derail short-read sequencing” including “6 are intractable for short-read sequencing.” Statt began with Fragile X Syndrome (FMR1) and the challenge of sequencing pure cGG sequences. Their technology is able to overcome some of the barriers and distinguish differences in repeats. Statt explained that they have been able to run a panel of 96 genes on a MinION flow cell below its capacity. An analysis of 21 samples was able to identify their copy number, ranging from zero to greater than 4. Scott described how their workflow was used for identification of pseudogenes and congenital adrenal hyperplasia. Their method was run on a 290 amplicon panel covering 27 genes and then sequence them on a a MinION flow cell. Asurgen and others are developing simpler and more comprehensive molecular diagnostic panels. I wonder if AmplideX uses custom software for analysis…
