Resource Centre
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Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variation
- PromethION
- Clinical research
- gDNA
- Whole genome
- Variant calling
- Structural variation
May 15 2023
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Nanopore sequencing: insights from neonatal intensive care to cancer
- PromethION
- Cancer research
- Clinical research
November 15 2023
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In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation
- PromethION
- Human genomics
- Transcriptome
- Isoforms
- Gene expression
- Long-read
November 13 2020
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Visualisation and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
- PromethION
- Long-read
- Population genomics
- MinION
- Guppy
- MinKNOW
August 15 2024
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Virtual Nanopore Day, Australia: Bioinformatics
- PromethION
- Bioinformatics
- Long-read
- Assembly
- Methylation
- EPI2ME
November 25 2020
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Virtual Nanopore Day, Australia. Cancer research with nanopore sequencing
- PromethION
- MinION
- GridION
- VolTRAX
- SmidgION
- Flongle
November 25 2020
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Cancer WGS on the PromethION
- PromethION
- Cancer research
- Clinical research
- High-throughput
September 8 2021
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Verkko: telomere-to-telomere assembly of diploid chromosomes
- PromethION
- Bioinformatics
- Human genomics
- Long-read
- Assembly
- gDNA
June 26 2022
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Using Oxford Nanopore sequencing in grapevine breeding
- PromethION
- London Calling
- Plant
- Bioinformatics
- Phasing
- Epigenetics
May 24 2024
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Using long-read sequencing to detect imprinted DNA methylation
- PromethION
- MinION
- Methylation
- Epigenetics
February 22 2019
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Using deep long-read RNAseq in Alzheimer’s disease brain to assess clinical relevance of RNA isoform diversity
- PromethION
- Splice variation
- Transcriptome
- Neuroscience
- Transcriptomics
- Isoforms
August 7 2023
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Using de novo assembly to identify structural variation of complex immune system gene regions
- PromethION
- Human genomics
- Long-read
- Whole genome
- Assembly
- Variant calling
February 4 2021
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Unraveling molecular mechanisms of immunity and cancer-resistance using the genomes of the Neotropical bats Artibeus jamaicensis and Pteronotus mesoamericanus
- PromethION
- Cancer research
- Clinical research
- Whole genome
- Assembly
- Evolution
September 11 2020
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Unprecedented access to haplotype-resolved biology enabled by ultra-long reads and Pore-C
- PromethION
- Phasing
- SNVs
- Long-read
- Methylation
- Chromatin conformation
May 15 2023
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Unlocking the banana pangenome: harnessing genetic diversity
- PromethION
- Plant
- Population genomics
- Variant calling
- Phasing
- Assembly
May 24 2024
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Unlinked rRNA genes are widespread among bacteria and archaea
- PromethION
- Microbiology
- Microbiome
- Metagenomics
- Bacteria
- Environment
November 11 2019
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Unique mutational changes in SARS-CoV2 genome of different state of India
- PromethION
- Microbiology
- Infectious disease
- Virus
- Outbreak
- RNA
August 25 2020
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Case study: understanding the drivers of oncogenesis
- PromethION
- London Calling
- Long-read
- Cancer research
- Structural variation
- Phasing
September 14 2023
