Resource Centre
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Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read data
- Long-read
- Human genomics
- Structural variation
- MinION
- Adaptive sampling
May 29 2025
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White paper: accelerating cancer research through comprehensive genomic analysis
- Long-read
- Cancer research
- Oncology
- Human genomics
- Assembly
- Bioinformatics
April 9 2025
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Case study: solving the parent-of-origin effect in retinoblastoma to determine disease severity
- Long-read
- Adaptive sampling
- Assembly
- Gene expression
- Human genomics
- Oncology
April 4 2025
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Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
- Long-read
- Human genomics
- Clinical research
- Structural variation
- PromethION 24/48
March 14 2025
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A systematic benchmark of nanopore long-read RNA sequencing for transcript-level analysis in human cell lines
- Long-read
- Isoforms
- Splice variation
- Transcriptome
- cDNA
- RNA
March 13 2025
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Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
- Long-read
- Targeted
- Human genomics
- Clinical research
- Variant calling
- Structural variation
February 25 2025
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The mutational and clonality profile of HGSOC is established early in tumour development and conserved throughout therapy resistance
- Long-read
- Cancer research
- PromethION 24/48
- Structural variation
February 19 2025
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Workflow overview: plant genome assembly
- Long-read
- Assembly
- DNA
- Epigenetics
- Kits
- Library prep
February 17 2025
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Enhancing nanopore adaptive sampling for PromethION using readfish at scale
- Long-read
- PromethION 24/48
- Bioinformatics
- Human genomics
- Targeted
- Adaptive sampling
January 30 2025
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The novel HLA-C*03:678 allele identified using nanopore sequencing
- Long-read
- Human genomics
- Phasing
- MinION
January 26 2025
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Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
- Long-read
- Human genomics
- Structural variation
- PromethION
January 20 2025
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Verkko2: integrating proximity ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffold
- Long-read
- Bioinformatics
- Phasing
December 26 2024
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MrHAMER2: high-accuracy long-read RNA sequencing to decode isoform-specific variation in viral transcripts during latency
- Long-read
- Virus
- Splice variation
- Isoforms
- RNA
- SNVs
December 22 2024
Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
- Long-read
- Human genomics
- Adaptive sampling
- Phasing
- Structural variation
- PromethION
December 17 2024
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Genome editing with the HDR-enhancing DNA-PKcs inhibitor AZD7648 causes large-scale genomic alterations
- Long-read
- Biopharma
- Structural variation
November 27 2024
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Single laboratory evaluation of the Q20+ nanopore sequencing kit for bacterial outbreak investigations
- Long-read
- Infectious disease
- GridION
- Whole genome
- Bacteria
November 5 2024
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
- Long-read
- Cancer research
- PromethION
- Structural variation
- Methylation
- Phasing
October 14 2024
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Scywalker: scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing
- Long-read
- Single cell
- Transcriptome
- Transcriptomics
- Workflow
- Scalable
September 10 2024
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Integrative analysis of long isoform sequencing and functional data identifies distinct cortical layer neuronal subtypes derived from human iPSCs
- Long-read
- Human genomics
- Single cell
- Neuroscience
- PromethION
- Guppy
August 21 2024