Resource Centre
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Single laboratory evaluation of the Q20+ nanopore sequencing kit for bacterial outbreak investigations
- Long-read
- Infectious disease
- GridION
- Whole genome
- Bacteria
November 5 2024
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
- Long-read
- Cancer research
- PromethION
- Structural variation
- Methylation
- Phasing
October 14 2024
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Scywalker: scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing
- Long-read
- Single cell
- Transcriptome
- Transcriptomics
- Workflow
- Scalable
September 10 2024
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Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
- Long-read
- Targeted
- Human genomics
- Clinical research
- Variant calling
- Structural variation
September 6 2024
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Integrative analysis of long isoform sequencing and functional data identifies distinct cortical layer neuronal subtypes derived from human iPSCs
- Long-read
- Human genomics
- Single cell
- Neuroscience
- PromethION
- Guppy
August 21 2024
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FindingNemo: A toolkit for DNA extraction, library preparation and purification for ultra-long nanopore sequencing
- Long-read
- GridION
- PromethION
- MinKNOW
August 19 2024
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Visualisation and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
- Long-read
- Population genomics
- MinION
- PromethION
- Guppy
- MinKNOW
August 15 2024
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High resolution HLA genotyping with third generation sequencing technology—A multicentre study
- Long-read
- Human genomics
- MinION
- Real-time
- Portable
August 12 2024
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A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree
- Long-read
- Human genomics
- Whole genome
- PromethION
August 5 2024
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Approach for phased sequence-based genotyping of the critical pharmacogene dihydropyrimidine dehydrogenase (DPYD)
- Long-read
- Phasing
- Human genomics
- Targeted
- MinION
July 11 2024
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High resolution long-read telomere sequencing reveals dynamic mechanisms in aging and cancer
- Long-read
- Cancer research
- Human genomics
June 18 2024
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A nanopore sequencing-based pharmacogenomic panel to personalise tuberculosis drug dosing
- Long-read
- Biopharma
- MinION
- Targeted
- Clinical research
- Phasing
June 15 2024
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London Calling 2024 technology update
- Long-read
- Adaptive sampling
- Assembly
- Automation
- Basecalling
- Bioinformatics
May 24 2024
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Genetic variants, haplotype determination, and function of novel alleles of CYP2B6 in a Han Chinese population
- Long-read
- Phasing
- Human genomics
- Targeted
- GridION
April 15 2024
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Human telomere length is chromosome end–specific and conserved across individuals
- Long-read
- Human genomics
- MinION
- Targeted
- Structural variation
April 11 2024
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Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
- Long-read
- Human genomics
- Clinical research
- Structural variation
- PromethION
April 9 2024
Improving bacterial metagenomic research through long-read sequencing
- Long-read
- Bacteria
- Metagenomics
- Microbiology
- MinION
- Plasmid
April 4 2024
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Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain
- Long-read
- RNA
- Isoforms
- Transcriptome
- cDNA
- Neuroscience
April 3 2024