Resource Centre
Workflow overview: tumour-normal sequencing
- PromethION 24/48
- Workflow
- Structural variation
- SNVs
- Epigenetics
- Methylation
Workflow overview: single-cell transcriptomics
- PromethION 24/48
- Single cell
- Transcriptome
- Cancer research
- Clinical research
- cDNA
Workflow overview: plant genome assembly
- PromethION 24/48
- Assembly
- DNA
- Epigenetics
- Kits
- Library prep
Workflow overview: human variant calling
- PromethION 24/48
- Human genomics
- Clinical research
- Cancer research
- Whole genome
- Variant calling
Whole-genome insights: nanopore sequencing in neuropathology
- PromethION 24/48
- PromethION 24/48
- PromethION 2
- EPI2ME
- Epigenetics
- Fusion transcript
Variant phasing for antisense oligonucleotide design using adaptive sampling
- PromethION 24/48
- PromethION 24/48
- Phasing
- Targeted
- Human genomics
- Phasing
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis
- PromethION 24/48
- Human genomics
- Bioinformatics
- Clinical research
- SNVs
- Structural variation
Utilizing nanopore long-read sequencing to simplify hereditary movement disorder diagnostics
- PromethION 24/48
- PromethION 24/48
- London Calling
Ultra-fast deep-learned classification algorithms for diagnosing pediatric CNS and solid tumors
- PromethION 24/48
- PromethION 24/48
- MinION
- Epigenetics
- Bioinformatics
- Cancer research
Towards routine modopathy diagnostics: advances and clinical application of direct RNA sequencing
- PromethION 24/48
- PromethION 24/48
- Epigenetics
- Gene expression
- Multiomics
- Pharmacogenomics
The mutational and clonality profile of HGSOC is established early in tumour development and conserved throughout therapy resistance
- PromethION 24/48
- Cancer research
- Long-read
- Structural variation
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project
- PromethION 24/48
- Human genomics
- SNVs
- Structural variation
The correlation between CpG methylation and gene expression is driven by sequence variants
- PromethION 24/48
- Methylation
- Population genomics
- Human genomics
Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
- PromethION 24/48
- Targeted
- Human genomics
- Clinical research
- Long-read
- Variant calling
A systematic benchmark of nanopore long-read RNA sequencing for transcript-level analysis in human cell lines
- PromethION 24/48
- Long-read
- Isoforms
- Splice variation
- Transcriptome
- cDNA
Structural patterns and transcriptional effects of integrated Epstein-Barr virus revealed by long-read sequencing and RNA-sequencing in NPC
- PromethION 24/48
- Cancer research
- Virus
- Fusion transcript
- Structural variation
Singleton rapid long-read genome sequencing as first-tier genetic test for critically ill children with suspected genetic diseases
- PromethION 24/48
- Clinical research
- Human genomics
- Structural variation
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing
- PromethION 24/48
- Bioinformatics
- Cancer research
- Structural variation
- EPI2ME
scnanoseq: an nf-core pipeline for Oxford Nanopore single-cell RNA sequencing
- PromethION 24/48
- Bioinformatics
- Single cell
- RNA
ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumour
- PromethION 24/48
- Cancer research
- Methylation
- MinKNOW
- Targeted
- Adaptive sampling