Resource Centre
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Resolving challenging medically relevant genes of the human genome with native Oxford Nanopore reads
- Human genomics
- London Calling
- Structural variation
May 20 2025
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Multiomic data identifies skewed X-inactivation and its role in masking Mendelian inheritance patterns
- Human genomics
- London Calling
- Phasing
- Methylation
May 20 2025
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Automated single-platform telomere-to-telomere de novo genome assembly for human, plant, and animal genomes
- Human genomics
- London Calling
- Plant
- Animal
- Population genomics
May 20 2025
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Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression in human B cells
- Human genomics
- Immunology
- MinION
May 8 2025
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Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping
- Human genomics
- Clinical research
- Adaptive sampling
- Structural variation
- PromethION 2
May 7 2025
Pharmacogenomic Oxford Nanopore sequencing of the Twist Alliance Long-Read PGx Panel
- Human genomics
- Pharmacogenomics
- Biopharma
- Clinical research
- Targeted
- Variant calling
May 6 2025
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Getting started guide: methylation
- Human genomics
- Methylation
- Epigenetics
- Clinical research
- Cancer research
- Whole genome
May 2 2025
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Brochure: EPI2ME — data analysis for all levels of expertise
- Human genomics
- 16S
- AAV
- AMR
- Assembly
- Bacteria
May 1 2025
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Workflow overview: human variant calling
- Human genomics
- Clinical research
- Cancer research
- PromethION 24/48
- Whole genome
- Variant calling
April 29 2025
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Fragile X syndrome carrier screening using a nanopore sequencing assay
- Human genomics
- Scalable
- Amplicons
- MinION
- PromethION 24/48
April 23 2025
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Efficient near telomere-to-telomere assembly of nanopore simplex reads
- Human genomics
- Assembly
- Phasing
- PromethION 24/48
April 17 2025
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Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy
- Human genomics
- PromethION 24/48
- Structural variation
- Clinical research
April 16 2025
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Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed
- Human genomics
- PromethION 24/48
- Structural variation
April 14 2025
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Repeat expansions with small TTTCA insertions in MARCHF6 cause familial myoclonus without epilepsy
- Human genomics
- Structural variation
- MinION
April 9 2025
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White paper: accelerating cancer research through comprehensive genomic analysis
- Human genomics
- Cancer research
- Oncology
- Assembly
- Long-read
- Bioinformatics
April 9 2025
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Case study: solving the parent-of-origin effect in retinoblastoma to determine disease severity
- Human genomics
- Adaptive sampling
- Assembly
- Gene expression
- Long-read
- Oncology
April 4 2025