Resource Centre
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The refined recurrence risk of de novo variants due to parental mosaicism
- Human genomics
- Amplicons
- MinION
July 2 2025
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Haplotype-resolved DNA methylation at the APOE locus identifies allele-specific epigenetic signatures relevant to Alzheimer's disease risk
- Human genomics
- Methylation
- Neuroscience
- PromethION 24/48
July 2 2025
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Uncovering global genetic diversity for equitable precision medicine
- Human genomics
- Population genomics
July 1 2025
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Screening of hidden pathogenic structural variants in PRKN
- Human genomics
- Neuroscience
- Structural variation
- SNVs
June 23 2025
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Resolving RH and GYP hybrid alleles while accessing the entire blood group genome with nanopore adaptive sampling
- Human genomics
- Clinical research
- Adaptive sampling
- SNVs
- Structural variation
- Phasing
June 11 2025
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Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients
- Human genomics
- Methylation
- SNVs
- Structural variation
- PromethION 24/48
- MinKNOW
June 3 2025
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Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read data
- Human genomics
- Structural variation
- Long-read
- MinION
- Adaptive sampling
May 29 2025
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Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn screening
- Human genomics
- Targeted
- MinION
- Clinical research
May 26 2025
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GIPC1 intermediate-length repeat expansion in amyotrophic lateral sclerosis
- Human genomics
- Neuroscience
- Structural variation
- MinION
May 23 2025
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Resolving challenging medically relevant genes of the human genome with native Oxford Nanopore reads
- Human genomics
- London Calling
- Structural variation
May 20 2025
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Multiomic data identifies skewed X-inactivation and its role in masking Mendelian inheritance patterns
- Human genomics
- London Calling
- Phasing
- Methylation
May 20 2025
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Automated single-platform telomere-to-telomere de novo genome assembly for human, plant, and animal genomes
- Human genomics
- London Calling
- Plant
- Animal
- Population genomics
May 20 2025
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Variant phasing for antisense oligonucleotide design using adaptive sampling
- Human genomics
- PromethION 24/48
- Phasing
- Targeted
- PromethION 24/48
- Phasing
May 19 2025
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Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia
- Human genomics
- MinION
- PromethION 2
- Phasing
- Structural variation
- Targeted
May 19 2025
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Towards routine modopathy diagnostics: advances and clinical application of direct RNA sequencing
- Human genomics
- PromethION 24/48
- Epigenetics
- Gene expression
- Multiomics
- Pharmacogenomics
May 19 2025
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Targeted adaptive sampling for pharmacogenomics and genome-wide variant analysis
- Human genomics
- PromethION 2
- Pharmacogenomics
- Bioinformatics
- Clinical research
- Population genomics
May 19 2025
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Stencilling accessible chromatin fibres reveals haplotype-specific regulation
- Human genomics
- MinION
- PromethION 2
- Epigenetics
- Multiomics
- Bioinformatics
May 19 2025
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Single-cell transcriptome sequencing
- Human genomics
- PromethION 2
- EPI2ME
- Single cell
- Transcriptomics
- PromethION 2
May 19 2025
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Real-time targeted sequencing with adaptive sampling
- Human genomics
- PromethION 24/48
- Epigenetics
- Structural variation
- Population genomics
- PromethION 24/48
May 19 2025
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High-quality T2T assemblies with Oxford Nanopore-only data — a Singaporean case study
- Human genomics
- PromethION 24/48
- Assembly
- Structural variation
- Whole genome
- Bioinformatics
May 19 2025