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ZCWPW1 loss-of-function variants in Alzheimer’s DiseasePublication

ZCWPW1 loss-of-function variants in Alzheimer’s Disease

  • Long-read
  • Phasing
  • Variant calling
  • Human genomics
  • Clinical research
  • Targeted
  • MinION
August 13 2021
Workflow: human variant callingWorkflow

Workflow: human variant calling

  • Human genomics
  • Clinical research
  • Cancer research
  • PromethION
  • Whole genome
  • Variant calling
  • Epigenetics
  • Phasing
  • Methylation
  • Structural variation
  • SNVs
July 5 2024
Parent-of-origin-aware genomic analysis infers segregation of pathogenic variantsVideo

Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants

  • Cancer research
  • Clinical research
  • Human genomics
  • Phasing
  • Methylation
  • Epigenetics
June 26 2023
Variant segregation in rare disease singletons and duos using nanopore adaptive samplingVideo

Variant segregation in rare disease singletons and duos using nanopore adaptive sampling

  • Bioinformatics
  • Clinical research
  • Phasing
  • 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 typingPublication

Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci; addressing the need for deceased donor expedited HLA typing

  • Human genomics
  • SNVs
  • Phasing
  • DNA
  • Amplicons
  • Targeted
  • MinION
  • Clinical research
  • Variant calling
  • Flongle
June 25 2020
Using Targeted Nanopore TechnologiesVideo

Using Targeted Nanopore Technologies

  • DNA
  • Targeted
  • Phasing
  • Structural variation
  • SNVs
  • Clinical research
January 27 2021
Using Oxford Nanopore sequencing in grapevine breedingVideo

Using Oxford Nanopore sequencing in grapevine breeding

  • London Calling
  • Plant
  • Bioinformatics
  • Phasing
  • Epigenetics
  • MinION
  • GridION
  • PromethION
May 24 2024
Unprecedented access to haplotype-resolved biology enabled by ultra-long reads and Pore-CPoster

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 diversityVideo

Unlocking the banana pangenome: harnessing genetic diversity

  • Plant
  • Population genomics
  • Variant calling
  • Phasing
  • Assembly
  • Bioinformatics
  • PromethION
  • Q20+
May 24 2024
Unlocking the power of haplotype-based molecular breeding using long read DNA sequencingPoster

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 oncogenesisCase study

Understanding the drivers of oncogenesis

  • PromethION
  • London Calling
  • Long-read
  • Cancer research
  • Structural variation
  • Phasing
September 14 2023
Ultrarapid and high-resolution HLA class I typing using transposase-based nanopore sequencing applied in pharmacogenetic testingPublication

Ultrarapid and high-resolution HLA class I typing using transposase-based nanopore sequencing applied in pharmacogenetic testing

  • Human genomics
  • Clinical research
  • Targeted
  • Amplicons
  • MinION
  • Phasing
  • Long-read
  • MinKNOW
June 23 2023
Ultra-rich human data — variant analysis with EPI2MEVideo

Ultra-rich human data — variant analysis with EPI2ME

  • Bioinformatics
  • Human genomics
  • Population genomics
  • EPI2ME
  • Epigenetics
  • SNVs
  • Phasing
  • Structural variation
  • Whole genome
September 17 2024
Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencingVideo

Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing

  • Cancer research
  • Human genomics
  • MinION
  • Flongle
  • Epigenetics
  • SNVs
  • Phasing
  • Structural variation
  • Targeted
September 17 2024
Targeted sequencing of the entire blood group genome by adaptive samplingVideo

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 patientsPublication

Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients

  • Targeted
  • Long-read
  • Phasing
  • Variant calling
  • Structural variation
  • SNVs
  • Real-time
May 26 2023
The structure, function, and evolution of a complete human chromosome 8Publication

The structure, function, and evolution of a complete human chromosome 8

  • Whole genome
  • Assembly
  • Long-read
  • gDNA
  • DNA
  • PromethION
  • Methylation
  • Epigenetics
  • Human genomics
  • Phasing
April 7 2021
Structural variation in All of Us analyzed with long-read sequencing at a scalePoster

Structural variation in All of Us analyzed with long-read sequencing at a scale

  • Nanopore Community
  • Human genomics
  • Population genomics
  • SNVs
  • Phasing
  • Long-read
  • Whole genome
  • Nanopore Community Meeting
December 11 2023
Workflow: SNV calling and phasingWorkflow

Workflow: SNV calling and phasing

  • Human genomics
  • Whole genome
  • Workflow
  • SNVs
  • Structural variation
  • Phasing
September 19 2022
Single-molecule simultaneous profiling of DNA methylation and DNA–protein interactions with Nanopore-DamIDPoster

Single-molecule simultaneous profiling of DNA methylation and DNA–protein interactions with Nanopore-DamID

  • Bioinformatics
  • Epigenetics
  • SNVs
  • Phasing
  • Whole genome
  • MinION
May 28 2022

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