Resource Centre
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Scalable nanopore sequencing for Alzheimer’s research
- Neuroscience
- Human genomics
- Population genomics
May 3 2023
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Detecting, classifying, and monitoring CNS tumors with nanopore sequencing
- Neuroscience
- Cancer research
- cfDNA
- Methylation
July 14 2023
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Virtual Nanopore Day, Australia - Rare Disease and Neurology
- Neuroscience
- Structural variation
February 11 2021
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Using deep long-read RNAseq in Alzheimer’s disease brain to assess clinical relevance of RNA isoform diversity
- Neuroscience
- Splice variation
- PromethION
- Transcriptome
- Transcriptomics
- Isoforms
August 7 2023
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The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
- Neuroscience
- Human genomics
- Structural variation
- Phasing
- Adaptive sampling
- PromethION
December 19 2024
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Screening of hidden pathogenic structural variants in PRKN
- Neuroscience
- Human genomics
- Structural variation
- SNVs
June 23 2025
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Robbing the array to feed the pore: exploring ultra-fast brain tumour diagnosis
- Neuroscience
- Bioinformatics
- Cancer research
- Clinical research
- Epigenetics
- GridION
May 24 2024
A novel Cas9-targeted long-read assay for simultaneous detection of IDH1/2 mutations and clinically relevant MGMT methylation in fresh biopsies of diffuse glioma
- Neuroscience
- Clinical research
- Cancer research
- Oncology
- Variant calling
- Methylation
June 20 2020
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Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci
- Neuroscience
- Human genomics
- Metabolic
- Targeted
- Adaptive sampling
- Variant calling
December 31 2024
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Nanopore long-read sequencing as a first-tier diagnostic test to detect repeat expansions in neurological disorders
- Neuroscience
- Human genomics
- Methylation
- Adaptive sampling
- Structural variation
- GridION
March 21 2025
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Nanopore direct RNA sequencing detects differential expression between human cell populations
- Neuroscience
- Gene expression
- Human genomics
- RNA
- cDNA
- Isoforms
August 3 2020
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
- Neuroscience
- Human genomics
- PromethION
- Whole genome
- Structural variation
- Clinical research
March 14 2019
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Long-read transcriptomic identification of synaptic adaptation to amyloid pathology in the AppNL-G-F knock-in mouse model of the earliest phase of Alz
- Neuroscience
- Human genomics
- Transcriptomics
- PromethION
- Guppy
August 10 2024
Long-read sequencing to solve exome negative Parkinson's disease
- Neuroscience
- PromethION
- Human genomics
- Clinical research
- London Calling
May 24 2024
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Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain
- Neuroscience
- RNA
- Isoforms
- Transcriptome
- cDNA
- Human genomics
April 3 2024
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Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain
- Neuroscience
- Amplicons
- Targeted
- Isoforms
- Transcriptome
- RNA
November 6 2019
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Long-read genome sequencing enhances diagnostics of paediatric neurological disorders
- Neuroscience
- Human genomics
- Methylation
- Structural variation
- Phasing
- PromethION 24/48
June 24 2025
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Lineage and spatial mapping of glioblastoma-associated immunity
- Neuroscience
- Immunology
- RNA
- cDNA
- MinION
- Gene expression
June 2 2020
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Case study: for large-cohort dementia research, nanopore sequencing offers scalability and accessibility
- Neuroscience
- Clinical research
- Human genomics
- High-throughput
- DNA
- Structural variation
July 24 2023
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Integrative analysis of long isoform sequencing and functional data identifies distinct cortical layer neuronal subtypes derived from human iPSCs
- Neuroscience
- Human genomics
- Single cell
- Long-read
- PromethION
- Guppy
August 21 2024