Resolving challenging medically-relevant genes using nanopore sequencing
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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
