Resource Centre
26 results
Scalable nanopore sequencing for Alzheimer’s research
- Human genomics
- Neuroscience
- Population genomics
May 3 2023
Detecting, classifying, and monitoring CNS tumors with nanopore sequencing
- Cancer research
- Neuroscience
- cfDNA
- Methylation
July 14 2023
Virtual Nanopore Day, Australia - Rare Disease and Neurology
- Neuroscience
- Structural variation
February 11 2021
Using deep long-read RNAseq in Alzheimer’s disease brain to assess clinical relevance of RNA isoform diversity
- Splice variation
- PromethION
- Transcriptome
- Neuroscience
- Transcriptomics
- Isoforms
- RNA
August 7 2023
Robbing the array to feed the pore: exploring ultra-fast brain tumour diagnosis
- Bioinformatics
- Cancer research
- Clinical research
- Neuroscience
- Epigenetics
- GridION
- PromethION
- PromethION 2 Integrated
- London Calling
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
- Clinical research
- Cancer research
- Oncology
- Variant calling
- Methylation
- SNVs
- Epigenetics
- Neuroscience
- Targeted
- DNA
- gDNA
- MinION
June 20 2020
Nanopore direct RNA sequencing detects differential expression between human cell populations
- Gene expression
- Human genomics
- RNA
- cDNA
- Isoforms
- Long-read
- Transcriptome
- Neuroscience
- Development
- MinION
August 3 2020
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
- Human genomics
- PromethION
- Whole genome
- Structural variation
- Clinical research
- Neuroscience
March 14 2019
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
- Human genomics
- Neuroscience
- Transcriptomics
- PromethION
- Guppy
August 10 2024
Long-read sequencing to solve exome negative Parkinson's disease
- PromethION
- Neuroscience
- Human genomics
- Clinical research
- London Calling
May 24 2024
Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain
- RNA
- Isoforms
- Transcriptome
- cDNA
- Neuroscience
- Human genomics
- GridION
- Long-read
April 3 2024
Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain
- Neuroscience
- Amplicons
- Targeted
- Isoforms
- Transcriptome
- RNA
- cDNA
- MinION
- Long-read
- Clinical research
- Human genomics
November 6 2019
Lineage and spatial mapping of glioblastoma-associated immunity
- Immunology
- RNA
- cDNA
- MinION
- Neuroscience
- Gene expression
June 2 2020
For large-cohort dementia research, nanopore sequencing offers scalability and accessibility
- Clinical research
- Human genomics
- High-throughput
- DNA
- Structural variation
- Methylation
- PromethION
- Variant calling
- Scalable
- Long-read
- Bioinformatics
- SNVs
- Whole genome
- Neuroscience
July 24 2023
Integrative analysis of long isoform sequencing and functional data identifies distinct cortical layer neuronal subtypes derived from human iPSCs
- Human genomics
- Single cell
- Neuroscience
- Long-read
- PromethION
- Guppy
August 21 2024
Igniting single-cell analysis of full-length RNA isoforms in brain development
- Bioinformatics
- Neuroscience
- Isoforms
- Single cell
- Transcriptomics
- GridION
- PromethION 2 Integrated
- PromethION
- London Calling
May 24 2024
Genetic and epigenetic profiling of FSHD by nanopore sequencing
- Clinical research
- Transcriptomics
- Neuroscience
- Bioinformatics
- Variant calling
- Phasing
- Human genomics
- Cancer research
- Epigenetics
- GridION
- PromethION
- London Calling
May 24 2024
Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the cerebral cortex
- Transcriptome
- Gene expression
- Isoforms
- Long-read
- PromethION
- RNA
- cDNA
- Human genomics
- Development
- Neuroscience
- Animal
October 15 2020
Full-length transcript atlas of the developing human cortex
- Direct analysis
- RNA
- Transcriptome
- PromethION
- PromethION 2 Integrated
- Isoforms
- Neuroscience
- London Calling
May 24 2024
DNA modifications in specific nuclei populations purified from human brain tissue
- Bioinformatics
- Neuroscience
- Epigenetics
- PromethION
- London Calling
May 24 2024