Resource Centre
)
Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients
- Human genomics
- Methylation
- SNVs
- Structural variation
- PromethION 24/48
- MinKNOW
March 19 2025
)
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
- Human genomics
- Clinical research
- Long-read
- Structural variation
- PromethION 24/48
March 14 2025
)
Research focus: pharmacogenomics
- Human genomics
- Clinical research
- Targeted
- DNA
- Adaptive sampling
- MinION
March 11 2025
)
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterisation of copy number variants in the LDLR gene
- Human genomics
- Cas enrichment
- MinION
- MinKNOW
- Structural variation
March 4 2025
)
Singleton rapid long-read genome sequencing as first-tier genetic test for critically ill children with suspected genetic diseases
- Human genomics
- Clinical research
- Structural variation
- PromethION 24/48
February 27 2025
)
Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
- Human genomics
- Targeted
- Clinical research
- Long-read
- Variant calling
- Structural variation
February 25 2025
)
Workflow overview: single-cell transcriptomics
- Human genomics
- Single cell
- Transcriptome
- PromethION 24/48
- Cancer research
- Clinical research
February 24 2025
)
Getting started guide: single-cell transcriptomics
- Human genomics
- Single cell
- RNA
- cDNA
- Fusion transcript
- Transcriptome
February 24 2025
)
)
Webinar: Unlocking disease mechanisms with multiomic nanopore sequencing
- Human genomics
- Knowledge exchange
- Webinar
February 18 2025
)
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature
- Human genomics
- Methylation
- Adaptive sampling
- GridION
- PromethION 24/48
- MinKNOW
February 18 2025
)
Application note: automation of the Oxford Nanopore Ligation Sequencing Kit XL V14 on the HAMILTON NGS STARlet generates high-quality DNA libraries fo
- Human genomics
- Library prep
- Automation
- Kit automation
- DNA
- gDNA
February 11 2025
Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility
- Human genomics
- Structural variation
- PromethION 24/48
February 10 2025
)
A relative-independent haplotype derivation method applied for non-invasive prenatal testing for chromosomal rearrangements in a pregnant carrier
- Human genomics
- cfDNA
- PromethION 24/48
- Structural variation
February 10 2025
)
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
- Human genomics
- Whole genome
- PromethION 24/48
- Clinical research
February 6 2025
)
Brochure: PromethION devices
- Human genomics
- PromethION
- Plant
- Population genomics
- Clinical research
- Animal
February 5 2025
)
Enhancing nanopore adaptive sampling for PromethION using readfish at scale
- Human genomics
- PromethION 24/48
- Bioinformatics
- Targeted
- Adaptive sampling
- Structural variation
January 30 2025
)
The novel HLA-C*03:678 allele identified using nanopore sequencing
- Human genomics
- Phasing
- MinION
- Long-read
January 26 2025
)
Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
- Human genomics
- Structural variation
- PromethION
- Long-read
January 20 2025
)
Contaminating manufacturing plasmids and disrupted vector genomes present in liver tissue following adeno-associated virus gene therapy
- Human genomics
- Biopharma
- AAV
- PromethION
- MinKNOW
January 14 2025