Resource Centre
325 results
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 sequencing
- Workflow
- Structural variation
- SNVs
- Epigenetics
- Methylation
- Cancer research
- Human genomics
- Whole genome
- PromethION
- Kits
- Sample prep
- Variant calling
August 4 2023
Workflow: structural variation
- Structural variation
- PromethION
- Human genomics
- Library prep
- Bioinformatics
- Alignment
- Variant calling
- gDNA
- Clinical research
- Workflow
November 10 2023
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
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
Whole-genome sequencing of SARS-CoV-2 in the Republic of Ireland during waves 1 and 2 of the pandemic
- MinION
- GridION
- Microbiology
- Outbreak
- cDNA
- RNA
- Amplicons
- Infectious disease
- Variant calling
- SNVs
February 10 2021
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 cancer
- Long-read
- Whole genome
- Human genomics
- Cancer research
- Oncology
- SNVs
- Structural variation
- Variant calling
- MinION
April 29 2021
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
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
- Long-read
- Bioinformatics
- Structural variation
- Variant calling
- Alignment
September 24 2021
VIRUSBreakend: viral integration recognition using single breakends
- Bioinformatics
- Whole genome
- Variant calling
- gDNA
- Human genomics
- Virus
December 11 2020
Viral sequencing reveals US healthcare personnel rarely become infected with SARS-CoV-2 through patient contact
- GridION
- Microbiology
- Outbreak
- cDNA
- RNA
- Amplicons
- Infectious disease
- Variant calling
- SNVs
February 1 2021
Viral genetic sequencing identifies staff transmission of COVID-19 is important in a community hospital outbreak
- MinION
- Microbiology
- Outbreak
- cDNA
- RNA
- Amplicons
- Infectious disease
- Variant calling
- SNVs
February 19 2021
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 de novo assembly to identify structural variation of complex immune system gene regions
- Human genomics
- Long-read
- Whole genome
- Assembly
- Variant calling
- Structural variation
- gDNA
- DNA
- PromethION
- Immunology
February 4 2021
Unraveling the features of somatic transposition in the Drosophila intestine
- MinION
- Long-read
- gDNA
- DNA
- Structural variation
- Whole genome
- Variant calling
- Animal
February 26 2021
Unlocking the banana pangenome: harnessing genetic diversity
- Plant
- Population genomics
- Variant calling
- Phasing
- Assembly
- Bioinformatics
- PromethION
- Q20+
May 24 2024
Unique mutational changes in SARS-CoV2 genome of different state of India
- Microbiology
- Infectious disease
- Virus
- Outbreak
- RNA
- cDNA
- PromethION
- Whole genome
- Amplicons
- Assembly
- Variant calling
- SNVs
August 25 2020
Unique K-mer sequences for validating cancer-related substitution, insertion and deletion mutations
- Whole genome
- Variant calling
- SNVs
- gDNA
- DNA
- Bioinformatics
June 20 2020