Analysis tools for resolving challenging medically relevant genes using nanopore whole-genome and digital panel data

This poster presents Mahi-mahi and Sillago, two tools for analysing challenging medically relevant regions using Oxford Nanopore whole-genome sequencing and digital panel data. Mahi-mahi characterises tandem repeat length, motif composition, interruptions, and methylation, while Sillago resolves highly similar gene copies to identify sequence variants, structural variation, and copy number.

Download this poster to discover:

• How Mahi-mahi resolves repeat expansions, complex motif patterns, and variation between individual reads
• How repeat analysis integrates with methylation information at loci such as FMR1
• Repeat-length concordance with assembly-derived calls in 245 samples from the 1000 Genomes Project and results from 14 Coriell cell lines with known expansions
• How Sillago uses informative variants to distinguish genes from pseudogenes and assign variants to the relevant copy
• Examples of complex variation at PMS2, RCCX, and the HBA1/HBA2 locus
• SMN1 and SMN2 copy-number agreement in 35 annotated reference cell lines
• How specialised analysis extends nanopore sequencing beyond standard variant calling for rare disease research and population genomics