Resource Centre
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
- Phasing
- Cancer research
- PromethION
- Structural variation
- Methylation
- Epigenetics
October 14 2024
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Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells
- Phasing
- Bioinformatics
- Single cell
- Variant calling
- PromethION
September 25 2024
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NESSI-Seq: novel cfDNA methylation assays for biomarker discovery and precision medicine
- Phasing
- Biopharma
- Cancer research
- Bioinformatics
- Human genomics
- PromethION
September 18 2024
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Antibody discovery through post-vaccination single-cell transcriptomics and haplotype-resolved germline sequencing
- Phasing
- Biopharma
- Clinical research
- Bioinformatics
- Human genomics
- Infectious disease
September 18 2024
)
Ultra-rich human data — variant analysis with EPI2ME
- Phasing
- Bioinformatics
- Human genomics
- Population genomics
- EPI2ME
- Epigenetics
September 17 2024
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Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing
- Phasing
- Cancer research
- Human genomics
- MinION
- Flongle
- Epigenetics
September 17 2024
)
Showcase: Carrier screening
- Phasing
- Cancer research
- Clinical research
- Bioinformatics
- Human genomics
- Population genomics
September 17 2024
)
Secondary analysis update
- Phasing
- Bioinformatics
- EPI2ME
- Assembly
- SNVs
- Structural variation
September 17 2024
)
needLR: a structural variant filtering and prioritization tool for long-read sequencing data
- Phasing
- Bioinformatics
- Human genomics
- PromethION
- Assembly
- SNVs
September 17 2024
)
Maximizing the power of genomic sequencing in pediatric rare disease
- Phasing
- Bioinformatics
- Human genomics
- PromethION
- EPI2ME
- SNVs
September 17 2024
)
Long-read sequencing for detecting methylation dysregulation
- Phasing
- Clinical research
- Bioinformatics
- Human genomics
- P2
- EPI2ME
September 17 2024
)
Long-read sequencing for comprehensive genomic profiling of infertile men
- Phasing
- Clinical research
- Bioinformatics
- Human genomics
- P2
- PromethION
September 17 2024
)
Evaluating the quality of long-read phasing methods in clinically relevant genes
- Phasing
- Bioinformatics
- Human genomics
- Population genomics
- Assembly
- SNVs
September 17 2024
End-to-end human variant identification using Oxford Nanopore sequencing
- Phasing
- Human genomics
- PromethION
- SNVs
- Structural variation
- Whole genome
September 17 2024
)
Diverse structural variants cluster near breakage-fusion-bridge site in cancer genomes
- Phasing
- Cancer research
- Human genomics
- Infectious disease
- Population genomics
- P2
September 17 2024
)
Decoding the spliced HIV-1 transcriptome with accurate long-read RNA sequencing
- Phasing
- Biopharma
- Bioinformatics
- Human genomics
- Infectious disease
- MinION
September 17 2024
)
DeepSomatic: accurate somatic small variant discovery for multiple sequencing technologies
- Phasing
- Bioinformatics
- Cancer research
- Variant calling
August 19 2024
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Approach for phased sequence-based genotyping of the critical pharmacogene dihydropyrimidine dehydrogenase (DPYD)
- Phasing
- Human genomics
- Targeted
- Long-read
- MinION
July 11 2024
)
Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq
- Phasing
- Human genomics
- PromethION
July 9 2024
)
Workflow: human variant calling
- Phasing
- Human genomics
- Clinical research
- Cancer research
- PromethION
- Whole genome
July 5 2024