Resource Centre
755 results
Genetic regulation of nascent RNA maturation revealed by direct RNA nanopore sequencing
- Human genomics
- RNA
- mRNA
- Splice variation
- MinION
- P2 Solo
- MinKNOW
August 29 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
- Human genomics
- Whole genome
- PromethION
- Clinical research
August 22 2024
Integrative analysis of long isoform sequencing and functional data identifies distinct cortical layer neuronal subtypes derived from human iPSCs
- Human genomics
- Single cell
- Neuroscience
- Long-read
- PromethION
- Guppy
August 21 2024
Single-cell long-read targeted sequencing reveals transcriptional variation in ovarian cancer
- Human genomics
- Cancer research
- Single cell
- MinION
- PromethION
- Guppy
August 12 2024
High resolution HLA genotyping with third generation sequencing technology—A multicentre study
- Human genomics
- MinION
- Real-time
- Long-read
- Portable
August 12 2024
Long-read transcriptomic identification of synaptic adaptation to amyloid pathology in the AppNL-G-F knock-in mouse model of the earliest phase of Alz
- Human genomics
- Neuroscience
- Transcriptomics
- PromethION
- Guppy
August 10 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved paediatric epilepsies and CHD2 episignature refinement
- Human genomics
- Methylation
- GridION
- PromethION
- Epigenetics
August 6 2024
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree
- Human genomics
- Whole genome
- PromethION
- Long-read
August 5 2024
A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing
- Human genomics
- Epigenetics
- PromethION
- Adaptive sampling
- MinKNOW
August 2 2024
A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes
- Human genomics
- Methylation
- MinION
- Adaptive sampling
- EPI2ME
July 24 2024
Testimonial: Transforming the future of clinical genetic testing
- Clinical research
- Human genomics
- Whole genome
July 17 2024
Testimonial: Taking multiomics to new lengths with Oxford Nanopore
- Transcriptomics
- Methylation
- Human genomics
July 17 2024
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy
- Human genomics
- GridION
- Adaptive sampling
- Targeted
July 16 2024
Webinar: how direct RNA nanopore sequencing can enhance your research
- Epigenetics
- Human genomics
- RNA
- Methylation
July 11 2024
Webinar: scalable human genomic characterisation | Oxford Nanopore
- Human genomics
- Methylation
- Cancer research
- Bioinformatics
July 10 2024
Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq
- Phasing
- Human genomics
- PromethION
July 9 2024
Nanopore DNA sequencing detected chromothripsis-induced PAFAH1B1::USP6 rearrangement in periosteal solid aneurysmal bone cyst initially diagnosed as o
- Cancer research
- Human genomics
- Clinical research
- Structural variation
- MinION
July 9 2024
Workflow: human variant calling
- Human genomics
- Clinical research
- Cancer research
- PromethION
- Whole genome
- Variant calling
- Epigenetics
- Phasing
- Methylation
- Structural variation
- SNVs
July 5 2024
Identification of transcriptionally-active human papillomavirus integrants through nanopore sequencing reveals viable targets for gene therapy against
- Cancer research
- Human genomics
- MinION
- Methylation
June 26 2024