Publications, posters, and customer presentations

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Poster

Poster: resolving challenging medically relevant genes in the human genome with native Oxford Nanopore reads

Oxford Nanopore reads of unrestricted length allow copy number variation calling for genes with highly similar paralogs, along with tandem repeat expansion characterisation and motif identification.

May 19, 2026

Poster

Poster: rapid whole-genome sequencing, de novo assembly, and characterisation of bacterial isolates

The nanopore-only microbial isolate sequencing solution (NO-MISS), combined with the EPI2ME wf-bacterial-genomes workflow, enables rapid sequencing and automated analysis of bacterial isolates.

May 19, 2026

Poster

Poster: 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.

May 19, 2026

Poster

Poster: rapid and scalable whole-genome microbial isolate sequencing

Find out how the nanopore-only microbial isolate sequencing solution provides rapid and scalable bacterial isolate sequencing.

May 19, 2026

Poster

Poster: 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.

May 19, 2026

Poster

Poster: 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.

May 19, 2026

Poster

Poster: 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.

May 19, 2026

Poster

Poster: open access Oxford Nanopore datasets for reproducible benchmarking, sequence exploration, and testing

Oxford Nanopore have published more than 20 representative datasets that are freely available for the community to use.

May 19, 2026

Poster

Poster: genomic insights into the biology of complex microbiomes with Oxford Nanopore metagenomic sequencing

Oxford Nanopore reads of unrestricted length enable highly contiguous metagenomic assemblies and accurate annotation, delivering strain-resolved biological insights into complex real-world microbial communities.

May 19, 2026

Poster

Poster: comprehensive pharmacogenomics profiling using Oxford Nanopore digital panels or hybridisation capture

Both digital panels and hybridisation capture workflows enable comprehensive pharmacogenomic approaches including improved *CYP2D6* resolution, pharmacogene star allele annotation, scalability, and native methylation signatures.

May 19, 2026

Poster

Poster: EPI2ME end-to-end workflows for biopharma quality control of plasmids and mRNA

Sample preparation, bespoke basecalling and medaka models, the Q-Line GridION device, and EPI2ME analysis workflows are revolutionising quality control in biopharma.

May 19, 2026

Poster

Poster: EPI2ME – an extensible product for applied bioinformatics to make sense of your sequencing

EPI2ME delivers an actively maintained portfolio of Nexflow-based bioinformatics pipelines. These provide 'one-click' solutions for scientific applications that span technical domains from plasmid assembly to whole human genome ...

May 19, 2026

Poster

Poster: end-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing

Comprehensive identification and interpretation of single nucleotide variants (SNVs), structural variants (SVs), copy number variants (CNVs), and epigenetic modifications from a single PromethION Flow Cell.

May 19, 2026

Poster

Poster: performance of Oxford Nanopore whole-genome methylation sequencing in human genetics applications

Genomic DNA can be sequenced on Oxford Nanopore devices without the need for fragmentation, amplification, or strand synthesis, improving mappability and retaining long-range data for methylation phasing.

May 19, 2026

Poster

Scalable pharmacogenomics (PGx) using targeted long-read genotyping panels

This poster presents a targeted end-to-end pharmacogenomics workflow encompassing enrichment, sequencing, and star allele annotation of CPIC gene panels, including CYP2D6.

November 11, 2025

Poster

Resolving challenging medically-relevant genes using nanopore sequencing

Oxford Nanopore sequencing provides a robust and flexible platform for interrogating challenging medically-relevant genes (CMRGs), enabling accurate variant calling, haplotype resolution, and improved diagnostic insight in regions previously considered ...

October 14, 2025

Poster

A multi-omic investigation of gene dysregulation in a complex chromothripsis-like translocation event using Oxford Nanopore sequencing

Using telomere-to-telomere (T2T) assembly with ultra-long reads, ligation-based sequencing, and Pore-C alongside cDNA sequencing and direct detection of 5mC/5hmC modifications, a complex chromothripsis-like ...

October 14, 2025

Poster

Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies

An Oxford Nanopore ultra-long read based telomere-to-telomere (T2T) assembly is applied to six cell lines in order to demonstrate the power of T2T assembly to resolve potential ...

October 14, 2025

Poster

An end-to-end workflow for pharmacogenomic target enrichment, star allele annotation, and CYP2D6 resolution using nanopore sequencing

This poster presents a targeted end-to-end pharmacogenomics workflow encompassing enrichment, sequencing, and star allele annotation of 18 genes with CPIC guidelines, including *CYP2D6*.

October 14, 2025

Poster

Validation and quality control of a molecular cloning experiment using de novo assembly of Oxford Nanopore reads

wf-clone-validation – for for rapid verification of artificial constructs such as plasmids, bacterial artificial constructs (BACs), and fosmids

May 20, 2025

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Publications, posters, and videos

Poster: resolving challenging medically relevant genes in the human genome with native Oxford Nanopore reads

Poster: rapid whole-genome sequencing, de novo assembly, and characterisation of bacterial isolates

Poster: structural and epigenetic characterisation of D4Z4 arrays in FSHD using Oxford Nanopore multiomic sequencing

Poster: rapid and scalable whole-genome microbial isolate sequencing

Poster: Oxford Nanopore Adaptive Sampling for tumour-only SNV, SV, and CNV profiling in one assay

Poster: digital panels enable targeted enrichment of haematological cancer-associated genomic regions during sequencing

Poster: comprehensive resolution of challenging genomic variants with Oxford Nanopore de novo genome assemblies

Poster: open access Oxford Nanopore datasets for reproducible benchmarking, sequence exploration, and testing

Poster: genomic insights into the biology of complex microbiomes with Oxford Nanopore metagenomic sequencing

Poster: comprehensive pharmacogenomics profiling using Oxford Nanopore digital panels or hybridisation capture

Poster: EPI2ME end-to-end workflows for biopharma quality control of plasmids and mRNA

Poster: EPI2ME – an extensible product for applied bioinformatics to make sense of your sequencing

Poster: end-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing

Poster: performance of Oxford Nanopore whole-genome methylation sequencing in human genetics applications

Scalable pharmacogenomics (PGx) using targeted long-read genotyping panels

Resolving challenging medically-relevant genes using nanopore sequencing

A multi-omic investigation of gene dysregulation in a complex chromothripsis-like translocation event using Oxford Nanopore sequencing

Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies

An end-to-end workflow for pharmacogenomic target enrichment, star allele annotation, and CYP2D6 resolution using nanopore sequencing

Validation and quality control of a molecular cloning experiment using de novo assembly of Oxford Nanopore reads

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