Carrier Analyses using ONT

Bradley Hall from Asuragen presented at the Nanopore Community Meeting in Houston. The session was titled “AmplideX PCR and nanopore sequencing for accessible carrier screening for any lab.” Hall started by stating that “everyone is a genetic carrier of a disease or condition.” There are >2000 conditions, and carrier screening is often challenging for some genes. Often, specialized panels are needed. Asuragen wants to create a carrier plus pCR/nanopore kit with a two-day workflow. The kit uses LSK 114. The Amplidex reporter automates analysis. Hall stated that they have tested the kit on key panels. The workflow was used to test the assay for cystic fibrosis and several unique variants. Copy number and phasing analyses are also possible. The unified workflow was tested and continues to be improved. I want to learn more about the amplicon pools and the approach they use. Targeted PCR amplification and enrichment could be useful for other approaches.

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How can targeted PCR amplification, enrichment, and ONT sequencing workflows address genetic variation? Photo by Josh Willink on Pexels.com