Resource Centre
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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)
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Efficient near telomere-to-telomere assembly of nanopore simplex reads
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Ultra-fast sample-to-sequencing workflow for clinical diagnostics using micropillars
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Functional and epigenomic consequences of DNMT1 variants in inherited neurological disorders
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Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
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Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy
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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
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RAPID: a targeted long-read RNA workflow for functional resolution of splicing variants in rare disease
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Analysis of clinically relevant large tandem repeats using nanopore sequencing
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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
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Single-cell long-read whole-genome sequencing reveals somatic transposon activity in human brain
Video )
Revealing hidden genomic variation in Parkinson’s disease
Poster )
Scalable pharmacogenomics (PGx) using targeted long-read genotyping panels
Video )
cfDNA methylation sequencing: a precision tool for early detection of neurodegenerative disorders
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Ensilication preserves high-molecular-weight native DNA for clinical long-read sequencing