Resource Centre
ZCWPW1 loss-of-function variants in Alzheimer’s Disease
- Phasing
- Long-read
- Variant calling
- Human genomics
- Clinical research
- Targeted
Workflow overview: pharmacogenomics with adaptive sampling
- Phasing
- Pharmacogenomics
- Biopharma
- Human genomics
- Clinical research
- Targeted
Workflow overview: human variant calling
- Phasing
- Human genomics
- Clinical research
- Cancer research
- PromethION 24/48
- Whole genome
Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants
- Phasing
- Cancer research
- Clinical research
- Human genomics
- Methylation
- Epigenetics
Verkko2: integrating proximity ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffold
- Phasing
- Bioinformatics
- Long-read
Variant segregation in rare disease singletons and duos using nanopore adaptive sampling
- Phasing
- Bioinformatics
- Clinical research
- Targeted
- MinION
- Nanopore Community Meeting
Variant phasing for antisense oligonucleotide design using adaptive sampling
- Phasing
- Phasing
- PromethION 24/48
- Targeted
- Human genomics
- PromethION 24/48
Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci
- Phasing
- Human genomics
- SNVs
- DNA
- Amplicons
- Targeted
Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia
- Phasing
- Phasing
- MinION
- PromethION 2
- Structural variation
- Targeted
Using Targeted Nanopore Technologies
- Phasing
- DNA
- Targeted
- Structural variation
- SNVs
- Clinical research
Using Oxford Nanopore sequencing in grapevine breeding
- Phasing
- London Calling
- Plant
- Bioinformatics
- Epigenetics
- MinION
Unprecedented access to haplotype-resolved biology enabled by ultra-long reads and Pore-C
- Phasing
- SNVs
- Long-read
- PromethION
- Methylation
- Chromatin conformation
Unlocking the banana pangenome: harnessing genetic diversity
- Phasing
- Plant
- Population genomics
- Variant calling
- Assembly
- Bioinformatics
Unlocking the power of haplotype-based molecular breeding using long read DNA sequencing
- Phasing
- Plant
- SNVs
- Structural variation
- Targeted
- London Calling
Case study: understanding the drivers of oncogenesis
- Phasing
- PromethION
- London Calling
- Long-read
- Cancer research
- Structural variation
Ultrarapid and high-resolution HLA class I typing using transposase-based nanopore sequencing applied in pharmacogenetic testing
- Phasing
- Human genomics
- Clinical research
- Targeted
- Amplicons
- MinION
Ultra-rich human data — variant analysis with EPI2ME
- Phasing
- Bioinformatics
- Human genomics
- Population genomics
- EPI2ME
- Epigenetics
Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
- Phasing
- Human genomics
- Long-read
- Adaptive sampling
- Structural variation
- PromethION
Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing
- Phasing
- Cancer research
- Human genomics
- MinION
- Flongle
- Epigenetics
The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
- Phasing
- Human genomics
- Neuroscience
- Structural variation
- Adaptive sampling
- PromethION