Resource Centre
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ZCWPW1 loss-of-function variants in Alzheimer’s Disease
- Phasing
- Long-read
- Variant calling
- Human genomics
- Clinical research
- Targeted
August 13 2021
)
Workflow overview: human variant calling
- Phasing
- Human genomics
- Clinical research
- Cancer research
- PromethION 24/48
- Whole genome
April 29 2025
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Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants
- Phasing
- Cancer research
- Clinical research
- Human genomics
- Methylation
- Epigenetics
June 26 2023
)
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
December 26 2024
)
Variant segregation in rare disease singletons and duos using nanopore adaptive sampling
- Phasing
- Bioinformatics
- Clinical research
- Targeted
- MinION
- Nanopore Community Meeting
September 27 2023
)
Variant phasing for antisense oligonucleotide design using adaptive sampling
- Phasing
- Phasing
- PromethION 24/48
- Targeted
- Human genomics
- PromethION 24/48
May 19 2025
)
Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci
- Phasing
- Human genomics
- SNVs
- DNA
- Amplicons
- Targeted
June 25 2020
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Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia
- Phasing
- Phasing
- MinION
- PromethION 2
- Structural variation
- Targeted
May 19 2025
)
Using Targeted Nanopore Technologies
- Phasing
- DNA
- Targeted
- Structural variation
- SNVs
- Clinical research
January 27 2021
)
Using Oxford Nanopore sequencing in grapevine breeding
- Phasing
- London Calling
- Plant
- Bioinformatics
- Epigenetics
- MinION
May 24 2024
)
Unprecedented access to haplotype-resolved biology enabled by ultra-long reads and Pore-C
- Phasing
- SNVs
- Long-read
- PromethION
- Methylation
- Chromatin conformation
May 15 2023
)
Unlocking the banana pangenome: harnessing genetic diversity
- Phasing
- Plant
- Population genomics
- Variant calling
- Assembly
- Bioinformatics
May 24 2024
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Unlocking the power of haplotype-based molecular breeding using long read DNA sequencing
- Phasing
- Plant
- SNVs
- Structural variation
- Targeted
- London Calling
May 19 2023
)
Case study: understanding the drivers of oncogenesis
- Phasing
- PromethION
- London Calling
- Long-read
- Cancer research
- Structural variation
September 14 2023
)
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
June 23 2023
)
Ultra-rich human data — variant analysis with EPI2ME
- Phasing
- Bioinformatics
- Human genomics
- Population genomics
- EPI2ME
- Epigenetics
September 17 2024
)
Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
- Phasing
- Human genomics
- Long-read
- Adaptive sampling
- Structural variation
- PromethION
December 17 2024
)
Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing
- Phasing
- Cancer research
- Human genomics
- MinION
- Flongle
- Epigenetics
September 17 2024
)
The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
- Phasing
- Human genomics
- Neuroscience
- Structural variation
- Adaptive sampling
- PromethION
December 19 2024
)
The novel HLA-C*03:678 allele identified using nanopore sequencing
- Phasing
- Human genomics
- MinION
- Long-read
January 26 2025