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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: 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: Characterising structural variants in FFPE cancer research samplesWorkflow

Workflow: Characterising structural variants in FFPE cancer research samples

  • Workflow
  • Cancer research
  • Clinical research
  • Whole genome
  • Human genomics
  • Sample prep
  • Library prep
  • gDNA
  • DNA
  • PromethION
  • Bioinformatics
July 8 2022
Workflow: bacterial isolate sequencingWorkflow

Workflow: bacterial isolate sequencing

  • Bacteria
  • Whole genome
  • DNA
  • Microbiology
  • Infectious disease
  • Clinical research
  • Identification
  • Environment
June 6 2024
Workflow: AAV sequencingWorkflow

Workflow: AAV sequencing

  • Workflow
  • Microbiology
  • Clinical research
  • DNA
  • MinION
  • GridION
  • Sample prep
  • Library prep
  • EPI2ME
  • Bioinformatics
November 17 2023
The WIPE assay for selection and elimination of HIV-1 provirus in vitro using latency-reversing agentsPublication

The WIPE assay for selection and elimination of HIV-1 provirus in vitro using latency-reversing agents

  • Microbiology
  • Clinical research
  • Virus
  • MinION
  • Whole genome
  • RNA
  • cDNA
  • Variant calling
November 14 2019
Widespread occurrence of hybrid internal-terminal exons in human transcriptomesPublication

Widespread occurrence of hybrid internal-terminal exons in human transcriptomes

  • Transcriptome
  • Long-read
  • RNA
  • cDNA
  • Isoforms
  • Splice variation
  • Clinical research
  • Direct analysis
May 29 2021
Whole genome sequencing reveals virulence potentials of *Helicobacter pylori* strain KE21 isolated from a Kenyan patient with gastric signet ring cell carcinomaPublication

Whole genome sequencing reveals virulence potentials of Helicobacter pylori strain KE21 isolated from a Kenyan patient with gastric signet ring cell carcinoma

  • Microbiology
  • Infectious disease
  • Clinical research
  • Bacteria
  • Cancer research
  • MinION
  • Whole genome
  • Assembly
August 29 2020
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 of human Enteroviruses from clinical samples by nanopore direct RNA sequencingPublication

Whole-genome sequencing of human Enteroviruses from clinical samples by nanopore direct RNA sequencing

  • Microbiology
  • Virus
  • Whole genome
  • Assembly
  • Direct analysis
  • RNA
  • cDNA
  • MinION
  • Clinical research
July 31 2020
Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variationPoster

Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variation

  • Clinical research
  • PromethION
  • gDNA
  • Whole genome
  • Variant calling
  • Structural variation
  • SNVs
  • Methylation
May 15 2023
Whole genome sequencing and phylogenetic classification of Tunisian SARS-CoV-2 strains from patients of the Military Hospital in TunisPublication

Whole genome sequencing and phylogenetic classification of Tunisian SARS-CoV-2 strains from patients of the Military Hospital in Tunis

  • Microbiology
  • Infectious disease
  • Virus
  • Outbreak
  • GridION
  • RNA
  • cDNA
  • Whole genome
  • Clinical research
  • Assembly
  • SNVs
  • Evolution
October 9 2020
Whole-genome sequencing and genetic diversity of severe fever with thrombocytopenia syndrome virus using multiplex PCR-based nanopore sequencing, Republic of KoreaPublication

Whole-genome sequencing and genetic diversity of severe fever with thrombocytopenia syndrome virus using multiplex PCR-based nanopore sequencing, Republic of Korea

  • Virus
  • Clinical research
  • Microbiology
  • Long-read
  • MinION
September 12 2022
Whole genome assembly of human papillomavirus by nanopore long-read sequencingPublication

Whole genome assembly of human papillomavirus by nanopore long-read sequencing

  • Oncology
  • Cancer research
  • Clinical research
  • Microbiology
  • Infectious disease
  • MinION
  • DNA
  • Long-read
January 4 2022
Whole-genome analysis of VREfm isolates with daptomycin resistance using Oxford Nanopore and Illumina sequencingPoster

Whole-genome analysis of VREfm isolates with daptomycin resistance using Oxford Nanopore and Illumina sequencing

  • Bioinformatics
  • Whole genome
  • Clinical research
  • Infectious disease
  • Bacteria
  • Microbiology
  • AMR
  • DNA
  • Direct analysis
  • EPI2ME
  • MinION
June 20 2019
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

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