Resource Centre
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Workflow overview: single-cell transcriptomics
- PromethION 24/48
- Single cell
- Transcriptome
- Cancer research
- Clinical research
- cDNA
February 24 2025
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Workflow overview: plant genome assembly
- PromethION 24/48
- Assembly
- DNA
- Epigenetics
- Kits
- Library prep
February 17 2025
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Workflow overview: human variant calling
- PromethION 24/48
- Human genomics
- Clinical research
- Cancer research
- Whole genome
- Variant calling
April 29 2025
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Whole-genome insights: nanopore sequencing in neuropathology
- PromethION 24/48
- PromethION 24/48
- PromethION 2
- EPI2ME
- Epigenetics
- Fusion transcript
May 19 2025
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Variant phasing for antisense oligonucleotide design using adaptive sampling
- PromethION 24/48
- PromethION 24/48
- Phasing
- Targeted
- Human genomics
- Phasing
May 19 2025
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Utilizing nanopore long-read sequencing to simplify hereditary movement disorder diagnostics
- PromethION 24/48
- PromethION 24/48
May 19 2025
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Ultra-fast deep-learned classification algorithms for diagnosing pediatric CNS and solid tumors
- PromethION 24/48
- PromethION 24/48
- MinION
- Epigenetics
- Bioinformatics
- Cancer research
May 19 2025
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Towards routine modopathy diagnostics: advances and clinical application of direct RNA sequencing
- PromethION 24/48
- PromethION 24/48
- Epigenetics
- Gene expression
- Multiomics
- Pharmacogenomics
May 19 2025
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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
February 19 2025
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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
January 28 2025
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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
February 25 2025
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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
March 13 2025
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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
February 17 2025
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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
February 27 2025
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing
- PromethION 24/48
- Bioinformatics
- Cancer research
- Structural variation
- EPI2ME
April 4 2025
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scnanoseq: an nf-core pipeline for Oxford Nanopore single-cell RNA sequencing
- PromethION 24/48
- Bioinformatics
- Single cell
- RNA
April 11 2025
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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
May 20 2025
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Robbing the array to feed the pore: exploring ultra-fast brain tumour diagnosis
- PromethION 24/48
- Bioinformatics
- Cancer research
- Clinical research
- Neuroscience
- Epigenetics
May 24 2024
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed
- PromethION 24/48
- Human genomics
- Structural variation
April 14 2025
Research focus: pharmacogenomics
- PromethION 24/48
- Clinical research
- Human genomics
- Targeted
- DNA
- Adaptive sampling
March 11 2025