Publications, posters, and videos
Featured
:quality(80))
Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing
:quality(80))
Linkage blocks involving multiple replicons organize Borrelia burgdorferi strain variation and influence virulence in Lyme disease
:quality(80))
Nanopore metagenomic sequencing links clinically relevant resistance determinants to pathogens
:quality(80))
Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis
Latest publications
:quality(80))
Surveying alternative transcripts of disease-associated genes and their cell type specificity – a case study with ANK3
Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing
Linkage blocks involving multiple replicons organize Borrelia burgdorferi strain variation and influence virulence in Lyme disease
:quality(80))
Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders
Latest research posters
:quality(80))
Comprehensive resolution of challenging genomic variants with Oxford Nanopore de novo genome assemblies
Find out how to generate telomere-to-telomere genome assemblies using long and ultra-long nanopore reads for platinum-standard references.
:quality(80))
Structural and epigenetic characterisation of D4Z4 arrays in FSHD using Oxford Nanopore multiomic sequencing
Find out how Oxford Nanopore sequencing reveals genetic and epigenetic variation to characterise FSHD.
:quality(80))
Digital panels enable targeted enrichment of haematological cancer-associated genomic regions during sequencing
Discover how nanopore sequencing with Adaptive Sampling can target cancer-associated genes from blood-derived and bone marrow-derived DNA.
:quality(80))
Oxford Nanopore Adaptive Sampling for tumour-only SNV, SV, and CNV profiling in one assay
Discover how nanopore sequencing with Adaptive Sampling reveals tumour-only SNVs, SVs, and CNVs in one assay.
Latest videos
:quality(80))
Accelerating precision oncology: Real-time genomic and epigenomic profiling with Oxford Nanopore
Presented at AACR 2026, this recording demonstrates how rapid molecular insights can be leveraged to inform clinical decision-making and advance time-critical cancer care.
:quality(80))
Exploring the methylation dimension
Watch this webinar to learn more about leveraging Oxford Nanopore gold standard methylation sequencing in your research.
:quality(80))
Uncovering the mystery behind sudden cardiac deaths with long read sequencing on PromethION
In this webinar, Dr Polona Le Quesne Stabej and Dr Zoe Ward from the University of Auckland discuss their research into DMPK repeat expansions and their role in inherited cardiac disease. Learn how sequencing on the PromethION 2 Integrated enabled the detection of a pathogenic repeat expansion.
:quality(80))
Direct RNA sequencing for therapeutic RNA quality
Learn how Oxford Nanopore sequencing can support end-to-end RNA therapeutic development.
