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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 variation
- Structural variation
- PromethION
- Human genomics
- Library prep
- Bioinformatics
- Alignment
- Variant calling
- gDNA
- Clinical research
- Workflow
November 10 2023
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 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 calling
- Human genomics
- Clinical research
- Cancer research
- PromethION
- Whole genome
- Variant calling
- Epigenetics
- Phasing
- Methylation
- Structural variation
- SNVs
July 5 2024
Workflow: direct RNA sequencing
- Workflow
- RNA
- cDNA
- Methylation
- Epigenetics
- Human genomics
- Clinical research
- Isoforms
- Splice variation
- Transcriptome
February 26 2024
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
Workflow: bacterial isolate sequencing
- Bacteria
- Whole genome
- DNA
- Microbiology
- Infectious disease
- Clinical research
- Identification
- Environment
June 6 2024
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 agents
- Microbiology
- Clinical research
- Virus
- MinION
- Whole genome
- RNA
- cDNA
- Variant calling
November 14 2019
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 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 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 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 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 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 Korea
- Virus
- Clinical research
- Microbiology
- Long-read
- MinION
September 12 2022
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 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 variants
- Cancer research
- Clinical research
- Human genomics
- Phasing
- Methylation
- Epigenetics
June 26 2023