Resource Centre
258 results
Sex differences in MAGEL2 gene promoter methylation in high functioning autism trends from a pilot study using nanopore Cas9 targeted sequencing
- Methylation
- Human genomics
- Cas enrichment
- Targeted
- MinION
November 29 2024
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
- Methylation
- Human genomics
- PromethION
November 13 2024
Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells
- Methylation
- Human genomics
- EPI2ME
- GridION
November 8 2024
Case study: delivering ‘unique insights’ into infection with direct RNA sequencing
- Methylation
- RNA
- mRNA
- Transcriptome
- Transcriptomics
- Isoforms
- Clinical research
- Infectious disease
- Virus
- MinION
November 6 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
- Methylation
- Human genomics
- Structural variation
- PromethION
- Guppy
October 29 2024
Diagnosing intravascular B-cell lymphoma using nanopore sequencing of cell-free DNA from cerebrospinal fluid
- Methylation
- Human genomics
- MinION Mk1B
- Cancer research
October 28 2024
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
- Methylation
- Cancer research
- PromethION
- Structural variation
- Phasing
- Epigenetics
- Long-read
October 14 2024
scNanoSeq-CUT&Tag: a single-cell long-read CUT&Tag sequencing method for efficient chromatin modification profiling within individual cells
- Methylation
- Single cell
- PromethION
October 7 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalogue of human genetic variation
- Methylation
- Human genomics
- PromethION
- Structural variation
- Whole genome
- Variant calling
October 2 2024
NCM 2024 technology update
- Methylation
- Nanopore Community Meeting
- Bioinformatics
- Transcriptomics
- Whole genome
- Variant calling
- Basecalling
- EPI2ME
- MinION Mk1D
- Workflow
September 16 2024
Measuring X inactivation skew for X-linked diseases with adaptive nanopore sequencing
- Methylation
- Human genomics
- Clinical research
- Targeted
- Adaptive sampling
- PromethION
September 16 2024
ROBIN: a unified nanopore-based sequencing assay integrating real-time, intraoperative methylome classification and next-day comprehensive molecular b
- Methylation
- Cancer research
- PromethION
- MinKNOW
- Targeted
- Adaptive sampling
September 11 2024
Glioblastoma, IDH-wildtype with primarily leptomeningeal localisation diagnosed by nanopore sequencing of cell-free DNA from cerebrospinal fluid
- Methylation
- Cancer research
- cfDNA
September 3 2024
Chromosome-level genome assembly and methylome profile enables insights for the conservation of endangered loggerhead sea turtles
- Methylation
- Animal
- Whole genome
- Conservation
- PromethION
- Guppy
August 28 2024
Adapting nanopore sequencing basecalling models for modification detection via incremental learning and anomaly detection
- Methylation
- Bioinformatics
- DNA
- RNA
August 21 2024
Giraffe: a tool for comprehensive processing and visualisation of multiple long-read sequencing data
- Methylation
- Bioinformatics
- DNA
- RNA
- Targeted
- Whole genome
August 8 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved paediatric epilepsies and CHD2 episignature refinement
- Methylation
- Human genomics
- GridION
- PromethION
- Epigenetics
August 6 2024
A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes
- Methylation
- Human genomics
- MinION
- Adaptive sampling
- EPI2ME
July 24 2024
Applications of nanopore sequencing in precision cancer medicine
- Methylation
- Cancer research
- Human genomics
- SNVs
- Splice variation
- RNA
July 19 2024
Testimonial: Taking multiomics to new lengths with Oxford Nanopore
- Methylation
- Transcriptomics
- Human genomics
July 17 2024