Resource Centre
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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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A high-throughput and time-efficient nanopore full-length 16S rRNA gene sequencing protocol for synthetic microbial communities
- Microbiology
- 16S
- MinION
- MinKNOW
April 7 2025
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Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing
- Bioinformatics
- PromethION 24/48
- Cancer research
- Structural variation
- EPI2ME
April 4 2025
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A portable, nanopore-based genotyping platform for near real-time detection of Puccinia graminis f. sp. tritici lineages and fungicide sensitivity
- Plant
- Fungi
- Amplicons
- Targeted
- MinION
- MinKNOW
April 1 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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Methylmap: visualisation of modified nucleotides for large cohort sizes
- Bioinformatics
- Methylation
- Scalable
- PromethION 24/48
March 26 2025
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Prospective, multicentre validation of a platform for rapid molecular profiling of central nervous system tumours
- Cancer research
- Methylation
- Real-time
- MinION
- GridION
- P2 Solo
March 25 2025
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Real-time genomic characterisation of paediatric acute leukaemia using adaptive sampling
- Cancer research
- Targeted
- Adaptive sampling
- P2 Solo
- MinION
March 24 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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High intra-laboratory reproducibility of nanopore sequencing in bacterial species underscores advances in its accuracy
- Microbiology
- Bacteria
- GridION
- MinION
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
A rapid approach for linear epitope vaccine profiling reveals unexpected epitope tag immunogenicity
- Biopharma
- Immunology
March 19 2025
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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
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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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ClairS-TO: a deep-learning method for long-read tumour-only somatic small variant calling
- Cancer research
- Bioinformatics
- Variant calling
- Q20+
- PromethION 24/48
- EPI2ME
March 13 2025
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Characterisation of Vibrio cholerae from the Jukskei River in Johannesburg, South Africa
- Infectious disease
- Bacteria
- MinKNOW
- EPI2ME
- Water testing
March 12 2025
Research focus: pharmacogenomics
- Clinical research
- Human genomics
- Targeted
- DNA
- Adaptive sampling
- MinION
March 11 2025
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A multiplex amplicon nanopore sequencing assay for simultaneous characterisation of UK tick species, their microbiomes, and their bloodmeal origin
- Infectious disease
- 16S
- Amplicons
- Microbiome
- GridION
March 11 2025