Resource Centre
Poster Poster: structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing
Poster 
Poster: DNA extraction from dried blood spots for Oxford Nanopore sequencing
Video 
AGBT 2026: a new era of biological discovery
Publication 
Flexible and rapid validation of structural variation using adaptive sampling
Publication Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
Publication DUCKS4: a comprehensive workflow for nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD)
Publication 
Efficient near telomere-to-telomere assembly of nanopore simplex reads
Publication 
Ultra-fast sample-to-sequencing workflow for clinical diagnostics using micropillars
Publication 
Functional and epigenomic consequences of DNMT1 variants in inherited neurological disorders
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
Video 
AMP 2025: Oxford Nanopore-based structural and epigenetic profiling of D4Z4 arrays in FSHD
Video 
AMP 2025: Long-range PCR meets long-read sequencing to resolve challenging ACMG tier 3 carrier screening genes
Publication 
RAPID: a targeted long-read RNA workflow for functional resolution of splicing variants in rare disease
Publication 
Analysis of clinically relevant large tandem repeats using nanopore sequencing
Publication 
Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation
Knowledge exchange 
Fast answers and the most complete view: 24-hour whole-genome sequencing with Oxford Nanopore
Publication 
Single-cell long-read whole-genome sequencing reveals somatic transposon activity in human brain
Video 
Revealing hidden genomic variation in Parkinson’s disease