Resource Centre
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Getting started guide: bulk transcriptomics
- Human genomics
- RNA
- cDNA
- Transcriptome
- Transcriptomics
- Fusion transcript
December 9 2024
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Sex differences in MAGEL2 gene promoter methylation in high functioning autism trends from a pilot study using nanopore Cas9 targeted sequencing
- Human genomics
- Methylation
- Cas enrichment
- Targeted
- MinION
November 29 2024
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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
- Human genomics
- Targeted
- Cas enrichment
- MinION
- MinKNOW
November 28 2024
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Full characterisation of unresolved structural variation through long-read sequencing and optical genome mapping
- Human genomics
- Structural variation
- MinION
- PromethION
November 25 2024
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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
- Human genomics
- PromethION
- Methylation
November 13 2024
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Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells
- Human genomics
- Methylation
- EPI2ME
- GridION
November 8 2024
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Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
- Human genomics
- DNA
- Structural variation
- P2 Solo
November 8 2024
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Case study: full-length RNA isoforms deliver new insights into human health and disease
- Human genomics
- RNA
- mRNA
- Transcriptome
- Transcriptomics
- cDNA
November 6 2024
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
- Human genomics
- Variant calling
- PromethION
- MinKNOW
- SNVs
November 4 2024
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Nanopore sequencing for T-cell receptor rearrangement analysis in cutaneous T-cell lymphoma
- Human genomics
- Cancer research
November 1 2024
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Getting started guide: single-cell transcriptomics
- Human genomics
- 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
- Human genomics
- Methylation
- Structural variation
- PromethION
- Guppy
October 29 2024
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Diagnosing intravascular B-cell lymphoma using nanopore sequencing of cell-free DNA from cerebrospinal fluid
- Human genomics
- Methylation
- MinION Mk1B
- Cancer research
October 28 2024
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High-resolution measurement of individual telomere lengths with Telo-seq
- Human genomics
- Cancer research
- DNA
October 22 2024
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
- Human genomics
- Whole genome
- RNA
- DNA
October 21 2024
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Novel nanopore sequencing method for determining Human Papillomavirus integrations in tumours without the need for whole genome sequencing
- Human genomics
- Cancer research
- Targeted
- Amplicons
- MinION
October 19 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
- Human genomics
- PromethION
- Methylation
- Structural variation
- Whole genome
- Variant calling
October 2 2024
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A preliminary indication that HLA-A*03:01 may be associated with visceral leishmaniasis development in people living with HIV in Ethiopia
- Human genomics
- Immunology
- MinION
- Infectious disease
September 30 2024
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Complex genetic variation in nearly complete human genomes
- Human genomics
- Whole genome
- PromethION
September 25 2024