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 Human Variant Calling
- Phasing
- Human genomics
- Clinical research
- Cancer research
- PromethION
- Whole genome
July 5 2024
)
Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants
- Phasing
- Cancer research
- Clinical research
- Human genomics
- Methylation
- Epigenetics
June 26 2023
)
Variant segregation in rare disease singletons and duos using nanopore adaptive sampling
- Phasing
- Bioinformatics
- Clinical research
- Targeted
- MinION
- Nanopore Community Meeting
September 27 2023
)
Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci; addressing the need for deceased donor expedited HLA typing
- Phasing
- Human genomics
- SNVs
- DNA
- Amplicons
- Targeted
June 25 2020
)
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
)
Unlocking the power of haplotype-based molecular breeding using long read DNA sequencing
- Phasing
- Plant
- SNVs
- Structural variation
- Targeted
- London Calling
May 19 2023
)
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
)
Targeted sequencing of the entire blood group genome by adaptive sampling
- Phasing
- Variant calling
- Immunology
- London Calling
May 24 2024
)
Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
- Phasing
- Targeted
- Long-read
- Variant calling
- Structural variation
- SNVs
May 26 2023
)
The structure, function, and evolution of a complete human chromosome 8
- Phasing
- Whole genome
- Assembly
- Long-read
- gDNA
- DNA
April 7 2021
)
Structural variation in All of Us analyzed with long-read sequencing at a scale
- Phasing
- Nanopore Community
- Human genomics
- Population genomics
- SNVs
- Long-read
December 11 2023
)
Workflow: SNV calling and phasing
- Phasing
- Human genomics
- Whole genome
- Workflow
- SNVs
- Structural variation
September 19 2022