Resource Centre
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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
- Structural variation
- Methylation
- Human genomics
- Clinical research
- Whole genome
- SNVs
January 10 2025
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The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
- Structural variation
- Human genomics
- Neuroscience
- Phasing
- Adaptive sampling
- PromethION
December 19 2024
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Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
- Structural variation
- Human genomics
- Methylation
- PromethION
December 18 2024
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Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
- Structural variation
- Human genomics
- Long-read
- Adaptive sampling
- Phasing
- PromethION
December 17 2024
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Genome editing with the HDR-enhancing DNA-PKcs inhibitor AZD7648 causes large-scale genomic alterations
- Structural variation
- Biopharma
- Long-read
November 27 2024
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Genomic surveillance of multidrug-resistant organisms based on long-read sequencing
- Structural variation
- Infectious disease
- Bacteria
- AMR
- GridION
- MinKNOW
November 25 2024
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Full characterisation of unresolved structural variation through long-read sequencing and optical genome mapping
- Structural variation
- Human genomics
- MinION
- PromethION
November 25 2024
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Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
- Structural variation
- DNA
- Human genomics
- P2 Solo
November 8 2024
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Getting started guide: single-cell transcriptomics
- Structural variation
- Single cell
- RNA
- cDNA
- Fusion transcript
- Transcriptome
November 1 2024
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Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
- Structural variation
- Human genomics
- Methylation
- PromethION
- Guppy
October 29 2024
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
- Structural variation
- Cancer research
- PromethION
- Methylation
- Phasing
- Epigenetics
October 14 2024
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The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution
- Structural variation
- Cancer research
- PromethION
- MinKNOW
- Q20+
October 9 2024
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalogue of human genetic variation
- Structural variation
- Human genomics
- PromethION
- Methylation
- Whole genome
- Variant calling
October 2 2024
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The art of GMP in the world of NGS: trials, tribulations, and a whole lot of acronyms — a success story
- Structural variation
- Biopharma
- Clinical research
- Bioinformatics
- Human genomics
- GridION
September 18 2024
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NESSI-Seq: novel cfDNA methylation assays for biomarker discovery and precision medicine
- Structural variation
- Biopharma
- Cancer research
- Bioinformatics
- Human genomics
- PromethION
September 18 2024
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Nanopore sequencing and functional screening of AAV genomes for optimal production and function
- Structural variation
- Biopharma
- Clinical research
- Bioinformatics
- MinION
- Single cell
September 18 2024
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From plasmids to mRNA, comprehensive nanopore QC tests for biomanufacturing
- Structural variation
- Biopharma
- GridION
- Assembly
- Gene expression
- Transcriptomics
September 18 2024
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Antibody discovery through post-vaccination single-cell transcriptomics and haplotype-resolved germline sequencing
- Structural variation
- Biopharma
- Clinical research
- Bioinformatics
- Human genomics
- Infectious disease
September 18 2024
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Ultra-rich human data — variant analysis with EPI2ME
- Structural variation
- 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
- Structural variation
- Cancer research
- Human genomics
- MinION
- Flongle
- Epigenetics
September 17 2024