Resource Centre
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High precision characterisation of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using Oxford Nanopore long read sequencing
- Structural variation
- Human genomics
- SNVs
- Amplicons
- MinION
- PromethION 24/48
July 10 2025
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Long-read genome sequencing enhances diagnostics of paediatric neurological disorders
- Structural variation
- Human genomics
- Methylation
- Neuroscience
- Phasing
- PromethION 24/48
June 24 2025
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Screening of hidden pathogenic structural variants in PRKN
- Structural variation
- Human genomics
- Neuroscience
- SNVs
June 23 2025
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Resolving RH and GYP hybrid alleles while accessing the entire blood group genome with nanopore adaptive sampling
- Structural variation
- Human genomics
- Clinical research
- Adaptive sampling
- SNVs
- Phasing
June 11 2025
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Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients
- Structural variation
- Human genomics
- Methylation
- SNVs
- PromethION 24/48
- MinKNOW
June 3 2025
Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read data
- Structural variation
- Human genomics
- Long-read
- MinION
- Adaptive sampling
May 29 2025
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GIPC1 intermediate-length repeat expansion in amyotrophic lateral sclerosis
- Structural variation
- Human genomics
- Neuroscience
- MinION
May 23 2025
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Resolving challenging medically relevant genes of the human genome with native Oxford Nanopore reads
- Structural variation
- London Calling
- Human genomics
May 20 2025
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End-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing
- Structural variation
- London Calling
- Phasing
- Methylation
May 20 2025
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Whole-genome insights: nanopore sequencing in neuropathology
- Structural variation
- Structural variation
- PromethION 2
- PromethION 24/48
- EPI2ME
- Epigenetics
May 19 2025
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Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia
- Structural variation
- Structural variation
- MinION
- PromethION 2
- Phasing
- Targeted
May 19 2025
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Real-time targeted sequencing with adaptive sampling
- Structural variation
- Structural variation
- PromethION 24/48
- Epigenetics
- Human genomics
- Population genomics
May 19 2025
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High-quality T2T assemblies with Oxford Nanopore-only data — a Singaporean case study
- Structural variation
- Structural variation
- PromethION 24/48
- Assembly
- Whole genome
- Bioinformatics
May 19 2025
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Parallel analysis of repeat expansions: an updated Clin-CATS workflow for R10 Flow Cells
- Structural variation
- Structural variation
- MinION
- GridION
- PromethION 2
- Epigenetics
May 19 2025
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Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics
- Structural variation
- Cancer research
- Clinical research
- Education
- Infectious disease
- MinION
May 19 2025
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Masterclass: How to sequence full-length plasmids in your own lab | LC25
- Structural variation
- Microbiology
- Biopharma
- Bioinformatics
- Infectious disease
- MinION
May 19 2025
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Masterclass: How to select the right library prep workflow for your experiment | LC25
- Structural variation
- MinION
- ElysION
- EPI2ME
- PromethION 2
- PromethION 24/48
May 19 2025
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Masterclass: How to call variants and methylation across the human genome | LC25
- Structural variation
- Human genomics
- Clinical research
- Population genomics
- Bioinformatics
- PromethION 2
May 19 2025
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Masterclass: How to analyse your Oxford Nanopore sequencing data | LC25
- Structural variation
- EPI2ME
- Assembly
- Epigenetics
- Metagenomics
- Multiomics
May 19 2025
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Long-read sequencing of an advanced cancer cohort
- Structural variation
- Structural variation
- PromethION 24/48
- EPI2ME
- Epigenetics
- Phasing
May 19 2025