Resource Centre
Poster Poster: structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing
Publication 
Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis
Publication 
Flexible and rapid validation of structural variation using adaptive sampling
Publication Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
Publication 
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
Publication 
Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy
Publication 
Long-read genome sequencing enhances diagnostics of paediatric neurological disorders
Publication ![Oxford Nanopore Technologies [ONT] sequencing: clinical validation in genetically heterogeneous disorders](https://a.storyblok.com/f/196663/94b60f6ad1/low-resolution-png-dna_wide_highres_1-16-1_1.png/m/700x470)
Oxford Nanopore Technologies [ONT] sequencing: clinical validation in genetically heterogeneous disorders
Publication Pre-phasing long reads improves structural variant genotyping
Publication 
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision-making
Publication 
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Publication 
Long-read genome sequencing and multi-omics in ageing and neurodegeneration
Poster Resolving challenging medically-relevant genes using nanopore sequencing
Poster 
Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies
Poster 
An end-to-end workflow for pharmacogenomic target enrichment, star allele annotation, and CYP2D6 resolution using nanopore sequencing
Publication 
Single-workflow nanopore whole-genome sequencing with adaptive sampling for accelerated and comprehensive paediatric cancer profiling
Case study 
Testimonial: Yaw Bediako
Publication 
Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia
Publication 
Enhancing CYP2D6 genotyping with nanopore sequencing to address allele diversity P. vivax malaria elimination
Publication 
Rapid epigenomic classification of acute leukaemia