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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: tumour-normal sequencingWorkflow

Workflow: tumour-normal sequencing

  • Workflow
  • Structural variation
  • SNVs
  • Epigenetics
  • Methylation
  • Cancer research
  • Human genomics
  • Whole genome
  • PromethION
  • Kits
  • Sample prep
  • Variant calling
August 4 2023
Workflow: structural variationWorkflow

Workflow: structural variation

  • Structural variation
  • PromethION
  • Human genomics
  • Library prep
  • Bioinformatics
  • Alignment
  • Variant calling
  • gDNA
  • Clinical research
  • Workflow
November 10 2023
Workflow: single-cell transcriptomicsWorkflow

Workflow: single-cell transcriptomics

  • Single cell
  • Transcriptome
  • PromethION
  • Cancer research
  • Clinical research
  • cDNA
  • Workflow
  • Human genomics
  • Splice variation
  • Gene fusions
  • Gene expression
  • Kits
February 20 2024
Workflow: large cohort sequencingWorkflow

Workflow: large cohort sequencing

  • Workflow
  • Human genomics
  • Clinical research
  • Population genomics
  • Whole genome
  • Structural variation
  • Variant calling
  • Assembly
  • Sample prep
  • Library prep
  • Methylation
  • SNVs
October 12 2023
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
Workflow: direct RNA sequencingWorkflow

Workflow: direct RNA sequencing

  • Workflow
  • RNA
  • cDNA
  • Methylation
  • Epigenetics
  • Human genomics
  • Clinical research
  • Isoforms
  • Splice variation
  • Transcriptome
February 26 2024
Workflow: FFPE cancer research samplesWorkflow

Workflow: FFPE cancer research samples

  • Workflow
  • Cancer research
  • Clinical research
  • Whole genome
  • Human genomics
  • Sample prep
  • Library prep
  • gDNA
  • DNA
  • PromethION
  • Bioinformatics
July 8 2022
Whole Human Genome Sequencing ProjectBioinformatics tool

Whole Human Genome Sequencing Project

  • Bioinformatics
  • Human genomics
  • Whole genome
  • Assembly
  • MinION
  • gDNA
June 20 2019
Whole human genome 5'-mC methylation analysis using long read nanopore sequencingPublication

Whole human genome 5'-mC methylation analysis using long read nanopore sequencing

  • Whole genome
  • Human genomics
  • Methylation
  • Epigenetics
  • DNA
  • gDNA
  • MinION
May 21 2021
Whole-genome sequencing of rare disease patients in a national healthcare systemPublication

Whole-genome sequencing of rare disease patients in a national healthcare system

  • Human genomics
  • Clinical research
  • Whole genome
  • DNA
  • gDNA
  • Structural variation
  • Variant calling
  • Long-read
February 18 2020
Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancerPublication

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

  • Long-read
  • Whole genome
  • Human genomics
  • Cancer research
  • Oncology
  • SNVs
  • Structural variation
  • Variant calling
  • MinION
April 29 2021
White paper: advantages of long reads for genome assemblyWhite paper

White paper: advantages of long reads for genome assembly

  • Whole genome
  • Human genomics
  • Plant
  • Microbiology
  • Assembly
  • Animal
September 7 2021
Wengan: Efficient and high quality hybrid *de novo* assembly of human genomesBioinformatics tool

Wengan: Efficient and high quality hybrid de novo assembly of human genomes

  • Assembly
  • DNA
  • gDNA
  • Whole genome
  • Human genomics
  • Bioinformatics
November 25 2019
Webinar: Structural variants in the French-Canadian populationEvents

Webinar: Structural variants in the French-Canadian population

  • Structural variation
  • Human genomics
October 30 2020
Webinar in Spanish: Aumento potencial del rendimiento diagnóstico en genómica humana, gracias a la secuenciación por nanoporosVideo

Webinar in Spanish: Aumento potencial del rendimiento diagnóstico en genómica humana, gracias a la secuenciación por nanoporos

  • Human genomics
September 1 2023
Scalable nanopore sequencing for Alzheimer’s researchVideo

Scalable nanopore sequencing for Alzheimer’s research

  • Human genomics
  • Neuroscience
  • Population genomics
May 3 2023
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
Webinar - Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypesVideo

Webinar - Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypes

  • Structural variation
  • Human genomics
  • Assembly
  • Bioinformatics
  • Webinar
January 10 2020
Integrating 10x Genomics single-cell and spatial profiling with Oxford Nanopore long-read sequencingVideo

Integrating 10x Genomics single-cell and spatial profiling with Oxford Nanopore long-read sequencing

  • Single cell
  • Webinar
  • Human genomics
January 19 2024

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