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
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
- 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
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
- Human genomics
- Methylation
- Clinical research
- Whole genome
- Structural variation
- SNVs
January 10 2025
Cost-effective and flexible preimplantation genetic testing (PGT) using adaptive sampling-based targeted nanopore sequencing (ASTN-seq)
- Human genomics
- Adaptive sampling
- Targeted
- MinION
- MinKNOW
January 10 2025
Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterisation of large-scale rearrangement
- Human genomics
- Cancer research
- Adaptive sampling
- SNVs
- Q20+
- MinION
January 9 2025
Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci
- Human genomics
- Neuroscience
- Metabolic
- Targeted
- Adaptive sampling
- Variant calling
December 31 2024
The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
- Human genomics
- Neuroscience
- Structural variation
- Phasing
- Adaptive sampling
- PromethION
December 19 2024
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
- Human genomics
- Structural variation
- Methylation
- PromethION
December 18 2024
Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
- Human genomics
- Long-read
- Adaptive sampling
- Phasing
- Structural variation
- PromethION
December 17 2024
Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing
- Human genomics
- Neuroscience
- Cas enrichment
- Targeted
- MinION
- Scalable
December 16 2024
Getting started guide: bulk transcriptomics
- Human genomics
- RNA
- cDNA
- Transcriptome
- Transcriptomics
- Fusion transcript
December 9 2024
Sex differences in MAGEL2 gene promoter methylation in high functioning autism trends from a pilot study using nanopore Cas9 targeted sequencing
- Human genomics
- Methylation
- Cas enrichment
- Targeted
- MinION
November 29 2024
Genewise detection of variants in MEFV gene using nanopore sequencing
- Human genomics
- Amplicons
- MinION Mk1B
- Flongle
- Variant calling
November 29 2024
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
- Human genomics
- Targeted
- Cas enrichment
- MinION
- MinKNOW
November 28 2024
Full characterisation of unresolved structural variation through long-read sequencing and optical genome mapping
- Human genomics
- Structural variation
- MinION
- PromethION
November 25 2024
SCAN: a nanopore-based, cost-effective decision-supporting tool for mass screening of aneuploidies
- Human genomics
- Clinical research
- GridION
November 22 2024