Resource Centre
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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
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A dual-mode targeted nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis
- Human genomics
- Clinical research
- Structural variation
- Targeted
- Amplicons
- SNVs
March 28 2025
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Webinar: Intuitive discovery and prioritisation of variants in rare diseases with EPI2ME and partners
- Human genomics
- EPI2ME
- Knowledge exchange
- Bioinformatics
March 27 2025
Nanopore long-read sequencing as a first-tier diagnostic test to detect repeat expansions in neurological disorders
- Human genomics
- Neuroscience
- Methylation
- Adaptive sampling
- Structural variation
- GridION
March 21 2025
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De novo antibody identification in human blood from full-length single B cell transcriptomics and matching haplotype-resolved germline assemblies
- Human genomics
- Single cell
- Immunology
- PromethION 24/48
- EPI2ME
March 21 2025
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Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients
- Human genomics
- Methylation
- SNVs
- Structural variation
- PromethION 24/48
- MinKNOW
March 19 2025
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
- Human genomics
- Clinical research
- Long-read
- Structural variation
- PromethION 24/48
March 14 2025
Research focus: pharmacogenomics
- Human genomics
- Clinical research
- Targeted
- DNA
- Adaptive sampling
- MinION
March 11 2025
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Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterisation of copy number variants in the LDLR gene
- Human genomics
- Cas enrichment
- MinION
- MinKNOW
- Structural variation
March 4 2025
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Singleton rapid long-read genome sequencing as first-tier genetic test for critically ill children with suspected genetic diseases
- Human genomics
- Clinical research
- Structural variation
- PromethION 24/48
February 27 2025
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Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
- Human genomics
- Targeted
- Clinical research
- Long-read
- Variant calling
- Structural variation
February 25 2025