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
- SNVs
- Human genomics
- Structural variation
- Amplicons
- MinION
- PromethION 24/48
July 10 2025
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Screening of hidden pathogenic structural variants in PRKN
- SNVs
- Human genomics
- Neuroscience
- Structural variation
June 23 2025
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Resolving RH and GYP hybrid alleles while accessing the entire blood group genome with nanopore adaptive sampling
- SNVs
- Human genomics
- Clinical research
- Adaptive sampling
- Structural variation
- Phasing
June 11 2025
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Monitoring the rate and variability of somatic genomic alterations using long-read sequencing
- SNVs
- Cancer research
- PromethION 24/48
June 11 2025
)
Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients
- SNVs
- Human genomics
- Methylation
- Structural variation
- PromethION 24/48
- MinKNOW
June 3 2025
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Whole-genome insights: nanopore sequencing in neuropathology
- SNVs
- SNVs
- PromethION 2
- PromethION 24/48
- EPI2ME
- Epigenetics
May 19 2025
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Towards routine modopathy diagnostics: advances and clinical application of direct RNA sequencing
- SNVs
- SNVs
- PromethION 24/48
- Epigenetics
- Gene expression
- Multiomics
May 19 2025
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Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics
- SNVs
- Cancer research
- Clinical research
- Education
- Infectious disease
- MinION
May 19 2025
)
Masterclass: How to sequence full-length plasmids in your own lab | LC25
- SNVs
- Microbiology
- Biopharma
- Bioinformatics
- Infectious disease
- MinION
May 19 2025
)
Masterclass: How to select the right library prep workflow for your experiment | LC25
- SNVs
- MinION
- ElysION
- EPI2ME
- PromethION 2
- PromethION 24/48
May 19 2025
)
Masterclass: How to call variants and methylation across the human genome | LC25
- SNVs
- Human genomics
- Clinical research
- Population genomics
- Bioinformatics
- PromethION 2
May 19 2025
)
Masterclass: How to analyse your Oxford Nanopore sequencing data | LC25
- SNVs
- EPI2ME
- Assembly
- Epigenetics
- Metagenomics
- Multiomics
May 19 2025
)
From field to genome: fast, portable SNP and SNPSTR tools for wildlife conservation
- SNVs
- SNVs
- MinION
- PromethION 2
- EPI2ME
- Targeted
May 19 2025
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Diagnostic validation of Oxford Nanopore sequencing in genetically heterogeneous disorders
- SNVs
- Human genomics
- Structural variation
- Targeted
- MinION
- GridION
May 19 2025
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Comprehensive characterisation of the FCGR locus using Oxford Nanopore sequencing to enhance immunotherapy efficacy
- SNVs
- SNVs
- MinION
- GridION
- PromethION 2
- Assembly
May 19 2025
)
Flyer: pharmacogenomics with Twist
- SNVs
- Pharmacogenomics
- Biopharma
- Human genomics
- Clinical research
- Targeted
May 6 2025
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Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis
- SNVs
- Human genomics
- Bioinformatics
- Clinical research
- Structural variation
- PromethION 24/48
May 2 2025
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Workflow overview: human variant calling
- SNVs
- Human genomics
- Clinical research
- Cancer research
- PromethION 24/48
- Whole genome
April 29 2025
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Genomic hotspots in the DENV-2 serotype (E, NS4B, and NS5 genes) are associated with dengue disease severity in the endemic region of India
- SNVs
- Infectious disease
- Virus
- GridION
- Outbreak
April 29 2025