Verification of Software and Amplification-Based Nanopore Sequencing Solution to Characterize Complex Variants in 11 Challenging, High-Frequency Carrier Genes
Summary
• Conventional sequencing methods struggle with detecting complex variants in key genes associated with inherited genetic disorders of high prevalence, necessitating complicated workflows and producing results that lack comprehensive detection of pathogenic variants.
• In response, we developed the AmplideX® Nanopore Carrier Plus Kit* and accompanying analysis software that detects both simple and complex variants across CFTR, SMN1/2, FMR1, HBA1/2, HBB, GBA, CYP21A2, TNXB, and and F8 intron inversions with a streamlined end end-to -end workflow.
• The Kit combines targeted PCR enrichment, nanopore sequencing, and companion analysis software to resolve complex pathogenic variants in target genes including short tandem repeats, copy number variation, structural variation, and differentiation from pseudogenes.
• The Kit’s analytical performance was assessed using a mixed sample set consisting of 445 samples.
*Research Use Only. Not for use in diagnostic procedures.
Oxford Nanopore Technologies products are not intended for use for health assessment or to diagnose, treat, mitigate, cure, or prevent any disease or condition.