Publications, posters, and videos
Featured
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Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis
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Concordance of rapid whole-genome and targeted long-read sequencing of paediatric brain tumours with standard clinical testing
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Direct RNA sequencing reveals selective remodelling of the host m6A epitranscriptome during Leishmania infection
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How ‘Sturgeon’ guides the surgeon in paediatric neuro-oncology
Latest publications
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Parallel analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells
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“NanoDel”: Identification of large-scale mitochondrial DNA deletions using long-read sequencing
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Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders
Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis
Latest research posters
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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.
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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.
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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.
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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
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A route to clinical fungal pathogen sequencing
Join this webinar to learn out about the advantages of targeted ITS and whole-genome sequencing approaches for potential clinical and epidemiological use.
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Metagenomics and microbial bioinformatics: latest tools and workflow
Learn how to analyse long-read amplicon and metagenomic datasets with the latest bioinformatics tools.
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Rapid and accurate pan-cancer subtyping using RNA-sequencing
Watch this on-demand webinar exploring how RNA sequencing is transforming childhood cancer diagnosis. Dr. Adam Shlien presents a multiscale transcriptomic atlas that matched or clarified diagnoses for 85% of paediatric tumours
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Advancing clinical metagenomics for patient care in India
Explores how distributed clinical metagenomics could be implemented at a large scale across India, with insights that can extend to healthcare systems globally.
