Resource Centre
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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
- Human genomics
- Methylation
- Clinical research
- Whole genome
- Structural variation
- SNVs
January 10 2025
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Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterisation of large-scale rearrangement
- Human genomics
- Cancer research
- Adaptive sampling
- SNVs
- Q20+
- MinION
January 9 2025
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Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci
- Human genomics
- Neuroscience
- Metabolic
- Targeted
- Adaptive sampling
- Variant calling
December 31 2024
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The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
- Human genomics
- Neuroscience
- Structural variation
- 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
- Human genomics
- Structural variation
- Methylation
- PromethION
December 18 2024
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Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
- Human genomics
- Long-read
- Adaptive sampling
- Phasing
- Structural variation
- PromethION
December 17 2024
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Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing
- Human genomics
- Neuroscience
- Cas enrichment
- Targeted
- MinION
- Scalable
December 16 2024
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Getting started guide: bulk transcriptomics
- Human genomics
- RNA
- cDNA
- Transcriptome
- Transcriptomics
- Fusion transcript
December 9 2024
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Sex differences in MAGEL2 gene promoter methylation in high functioning autism trends from a pilot study using nanopore Cas9 targeted sequencing
- Human genomics
- Methylation
- Cas enrichment
- Targeted
- MinION
November 29 2024
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Genewise detection of variants in MEFV gene using nanopore sequencing
- Human genomics
- Amplicons
- MinION Mk1B
- Flongle
- Variant calling
November 29 2024
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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
- Human genomics
- Targeted
- Cas enrichment
- MinION
- MinKNOW
November 28 2024
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Full characterisation of unresolved structural variation through long-read sequencing and optical genome mapping
- Human genomics
- Structural variation
- MinION
- PromethION
November 25 2024
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SCAN: a nanopore-based, cost-effective decision-supporting tool for mass screening of aneuploidies
- Human genomics
- Clinical research
- GridION
November 22 2024
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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
- Human genomics
- PromethION
- Methylation
November 13 2024
Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells
- Human genomics
- Methylation
- EPI2ME
- GridION
November 8 2024
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Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
- Human genomics
- DNA
- Structural variation
- P2 Solo
November 8 2024
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Case study: full-length RNA isoforms deliver new insights into human health and disease
- Human genomics
- RNA
- mRNA
- Transcriptome
- Transcriptomics
- cDNA
November 6 2024
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
- Human genomics
- Variant calling
- PromethION
- MinKNOW
- SNVs
November 4 2024
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Nanopore sequencing for T-cell receptor rearrangement analysis in cutaneous T-cell lymphoma
- Human genomics
- Cancer research
November 1 2024
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Getting started guide: single-cell transcriptomics
- Human genomics
- Single cell
- RNA
- cDNA
- Fusion transcript
- Transcriptome
November 1 2024