Resource Centre
)
ZCWPW1 loss-of-function variants in Alzheimer’s Disease
- Variant calling
- Long-read
- Phasing
- Human genomics
- Clinical research
- Targeted
August 13 2021
)
Workflow overview: tumour-normal sequencing
- Variant calling
- Workflow
- Structural variation
- SNVs
- Epigenetics
- Methylation
August 4 2023
)
Workflow overview: structural variation
- Variant calling
- Structural variation
- PromethION
- Human genomics
- Library prep
- Bioinformatics
November 10 2023
)
Workflow overview: large cohort sequencing
- Variant calling
- Workflow
- Human genomics
- Clinical research
- Population genomics
- Whole genome
October 12 2023
)
Workflow overview: human variant calling
- Variant calling
- Human genomics
- Clinical research
- Cancer research
- PromethION 24/48
- Whole genome
April 29 2025
)
The WIPE assay for selection and elimination of HIV-1 provirus in vitro using latency-reversing agents
- Variant calling
- Microbiology
- Clinical research
- Virus
- MinION
- Whole genome
November 14 2019
)
Whole-genome sequencing of SARS-CoV-2 in the Republic of Ireland during waves 1 and 2 of the pandemic
- Variant calling
- MinION
- GridION
- Microbiology
- Outbreak
- cDNA
February 10 2021
)
Whole-genome sequencing of rare disease patients in a national healthcare system
- Variant calling
- Human genomics
- Clinical research
- Whole genome
- DNA
- gDNA
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
- Variant calling
- Long-read
- Whole genome
- Human genomics
- Cancer research
- Oncology
April 29 2021
)
Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variation
- Variant calling
- Clinical research
- PromethION
- gDNA
- Whole genome
- Structural variation
May 15 2023
)
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
- Variant calling
- Long-read
- Bioinformatics
- Structural variation
- Alignment
September 24 2021
)
VIRUSBreakend: viral integration recognition using single breakends
- Variant calling
- Bioinformatics
- Whole genome
- gDNA
- Human genomics
- Virus
December 11 2020
)
Viral sequencing reveals US healthcare personnel rarely become infected with SARS-CoV-2 through patient contact
- Variant calling
- GridION
- Microbiology
- Outbreak
- cDNA
- RNA
February 1 2021
)
Viral genetic sequencing identifies staff transmission of COVID-19 is important in a community hospital outbreak
- Variant calling
- MinION
- Microbiology
- Outbreak
- cDNA
- RNA
February 19 2021
)
Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci
- Variant calling
- Human genomics
- SNVs
- Phasing
- DNA
- Amplicons
June 25 2020
)
Using de novo assembly to identify structural variation of complex immune system gene regions
- Variant calling
- Human genomics
- Long-read
- Whole genome
- Assembly
- Structural variation
February 4 2021
)
Unraveling the features of somatic transposition in the Drosophila intestine
- Variant calling
- MinION
- Long-read
- gDNA
- DNA
- Structural variation
February 26 2021
)
Unlocking the banana pangenome: harnessing genetic diversity
- Variant calling
- Plant
- Population genomics
- Phasing
- Assembly
- Bioinformatics
May 24 2024
)
Unique mutational changes in SARS-CoV2 genome of different state of India
- Variant calling
- Microbiology
- Infectious disease
- Virus
- Outbreak
- RNA
August 25 2020
)
Unique K-mer sequences for validating cancer-related substitution, insertion and deletion mutations
- Variant calling
- Whole genome
- SNVs
- gDNA
- DNA
- Bioinformatics
June 20 2020