Resolving challenging medically-relevant genes using nanopore sequencing

Oxford Nanopore sequencing provides a robust and flexible platform for interrogating challenging medically-relevant genes (CMRGs), enabling accurate variant calling, haplotype resolution, and improved diagnostic insight in regions previously considered intractable.

Download the poster to discover:

• How to enable allele- and haplotype-specific analysis of repeat expansions at clinically relevant short tandem repeats

How to characterise the full SMA locus

- How to resolve paralogues and multi-copy genes

• How to construct macro-satellites and complex repeat structures