Resource Centre
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Full characterisation of unresolved structural variation through long-read sequencing and optical genome mapping
- PromethION
- Human genomics
- Structural variation
- MinION
November 25 2024
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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
- PromethION
- Human genomics
- Methylation
November 13 2024
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Case study: revealing hidden biology with isoform-level single-cell transcriptomics
- PromethION
- Single cell
- Transcriptome
- Transcriptomics
- RNA
- mRNA
November 6 2024
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Case study: full-length RNA isoforms deliver new insights into human health and disease
- PromethION
- RNA
- mRNA
- Transcriptome
- Transcriptomics
- cDNA
November 6 2024
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
- PromethION
- Human genomics
- Variant calling
- MinKNOW
- SNVs
November 4 2024
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Getting started guide: single-cell transcriptomics
- PromethION
- Single cell
- RNA
- cDNA
- Fusion transcript
- Transcriptome
November 1 2024
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Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
- PromethION
- Human genomics
- Methylation
- Structural variation
- Guppy
October 29 2024
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Nanopore ultra-long sequencing and adaptive sampling spur plant complete telomere-to-telomere genome assembly
- PromethION
- Plant
- Adaptive sampling
- MinKNOW
October 16 2024
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
- PromethION
- Cancer research
- Structural variation
- Methylation
- Phasing
- Epigenetics
October 14 2024
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The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution
- PromethION
- Cancer research
- Structural variation
- MinKNOW
- Q20+
October 9 2024
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scNanoSeq-CUT&Tag: a single-cell long-read CUT&Tag sequencing method for efficient chromatin modification profiling within individual cells
- PromethION
- Single cell
- Methylation
October 7 2024
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalogue of human genetic variation
- PromethION
- Human genomics
- Methylation
- Structural variation
- Whole genome
- Variant calling
October 2 2024
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Giant extrachromosomal element “Inocle” potentially expands the adaptive capacity of the human oral microbiome
- PromethION
- Microbiology
- Plasmid
- Bacteria
October 1 2024
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Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells
- PromethION
- Bioinformatics
- Single cell
- Phasing
- Variant calling
September 25 2024
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Complex genetic variation in nearly complete human genomes
- PromethION
- Human genomics
- Whole genome
September 25 2024
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Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumour-normal pair for somatic benchmarks
- PromethION
- Human genomics
- Cancer research
September 22 2024
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NESSI-Seq: novel cfDNA methylation assays for biomarker discovery and precision medicine
- PromethION
- Biopharma
- Cancer research
- Bioinformatics
- Human genomics
- Epigenetics
September 18 2024
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Antibody discovery through post-vaccination single-cell transcriptomics and haplotype-resolved germline sequencing
- PromethION
- Biopharma
- Clinical research
- Bioinformatics
- Human genomics
- Infectious disease
September 18 2024
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Resolving structural configurations of DMD intragenic duplications through nanopore long-read sequencing
- PromethION
- Clinical research
- Bioinformatics
- Human genomics
- Structural variation
- Whole genome
September 17 2024
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needLR: a structural variant filtering and prioritization tool for long-read sequencing data
- PromethION
- Bioinformatics
- Human genomics
- Assembly
- SNVs
- Phasing
September 17 2024