ArticleNature biotechnology2022
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Article in Nature biotechnology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed.
- Leveraging ONT move table values for signal aware variant calling.Bioinformatics (Oxford, England) · 2026Article
- VCboost: reducing false positives in long-read variant calling for single-nucleotide polymorphism and indel detection in challenging genomic regions.Briefings in bioinformatics · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- Long-Read Haplotype Phasing Resolves Allelic Configuration as a Missing Layer of Precision Oncology.medRxiv : the preprint server for health sciences · 2026Article
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Quantitative metagenomics using a portable protocol.Applied and environmental microbiology · 2026Article
- cuteSV-OL: a real-time structural variation detection framework for nanopore sequencing devices.Bioinformatics (Oxford, England) · 2026Article
- Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.European journal of human genetics : EJHG · 2026Article
- Oxford Nanopore Sequencing in pediatric emergency infectious diseases: from rapid diagnosis to precision medicine.Frontiers in cellular and infection microbiology · 2026Review
- The transformative impact of ultra-rapid nanopore sequencing in precision medicine.Frontiers in immunology · 2026Review
- Proteomic Technology.Advances in experimental medicine and biology · 2026Review
- DemuxTrans: Transformer and temporal convolution network for accurate barcode demultiplexing in nanopore sequencing.Bioinformatics (Oxford, England) · 2025Article
- Leishmania mexicana telomeres at high resolution: Ku80, TERT, and alternative lengthening mechanisms.BMC genomics · 2025Article
- Decoding information stored in DNAs through single-molecule electrical detection platforms.Innovation (Cambridge (Mass.)) · 2025Review
- In vivo tracking of transfused platelets by next-generation sequencing of mitochondrial DNA.Blood advances · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- Epigenomic diagnosis and prognosis of Acute Myeloid Leukemia.Nature communications · 2025Article
- Deep learning-driven multi-omics analysis: enhancing cancer diagnostics and therapeutics.Briefings in bioinformatics · 2025Review
- Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.Molecular genetics and genomics : MGG · 2025Article
- Long-term follow-up of children who received rapid genomic sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
29 authors.
Funding
Abstract
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nanopore WGS that combines an optimized sample preparation protocol, distributing sequencing over 48 flow cells, near real-time base calling and alignment, accelerated variant calling and fast variant filtration for efficient manual review. Application to two example clinical cases identified a candidate variant in <8 h from sample preparation to variant identification. We show that this framework provides accurate variant calls and efficient prioritization, and accelerates diagnostic clinical genome sequencing twofold compared with previous approaches.
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