Genomic data in the All of Us Research Program
10.1038/s41586-023-06957-x · doi-reference
A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England
10.3389/fgene.2023.1282034 · doi-reference
Utility of long-read sequencing for All of Us
10.1038/s41467-024-44804-3 · doi-reference
Personalized pangenome references
10.1038/s41592-024-02407-2 · doi-reference
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
10.1016/j.xgen.2024.100674 · doi-reference
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
10.1101/gr.279273.124 · doi-reference
Adoption of cloud computing as innovation in the organization
10.1177/18479790221093992 · doi-reference
Comparison of R9.4.1/Kit10 and R10/Kit12 Oxford Nanopore flowcells and chemistries in bacterial genome reconstruction
10.1099/mgen.0.000910 · doi-reference
Revolutionising high resolution HLA genotyping for transplant assessment: validation, implementation and challenges of Oxford Nanopore Technologies’ Q20+ sequencing
10.1111/tan.15725 · doi-reference
The newest Oxford Nanopore R10.4.1 full-length 16S rRNA sequencing enables the accurate resolution of species-level microbial community profiling
10.1128/aem.00605-23 · doi-reference
Benchmarking of Nanopore R10.4 and R9.4.1 flow cells in single-cell whole-genome amplification and whole-genome shotgun sequencing
10.1016/j.csbj.2023.03.038 · doi-reference
Oxford Nanopore R10.4 long-read sequencing enables the generation of near-finished bacterial genomes from pure cultures and metagenomes without short-read or reference polishing
10.1038/s41592-022-01539-7 · doi-reference
Method of the year 2022: long-read sequencing
10.1038/s41592-022-01759-x · doi-reference
Comparative analysis of metagenomic classifiers for long-read sequencing datasets
10.1186/s12859-024-05634-8 · doi-reference
Nanopore DNA sequencing technologies and their applications towards single-molecule proteomics
10.1038/s41557-023-01322-x · doi-reference
Nanopore-based technologies beyond DNA sequencing
10.1038/s41565-022-01193-2 · doi-reference
Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry
10.1111/trf.15839 · doi-reference
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
10.3389/fgene.2023.1089956 · doi-reference
Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing
10.1016/j.isci.2023.108214 · doi-reference
Long-read sequencing identifies novel pathogenic intronic variants in Gitelman syndrome
10.1681/asn.2022050627 · doi-reference
Nanopore sequencing with T2T-CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos
10.1002/ctm2.1612 · doi-reference
Rapid short-read sequencing and aneuploidy detection using MinION nanopore technology
10.1534/genetics.115.182311 · doi-reference
Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis
10.1186/s41065-018-0069-1 · doi-reference
Analysis of preimplantation and clinical outcomes of two cases by Oxford Nanopore sequencing
10.1007/s43032-024-01470-6 · doi-reference
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
10.1038/s41525-024-00445-5 · doi-reference
Rapid sequencing-based diagnosis of thiamine metabolism dysfunction syndrome
10.1056/nejmc2100365 · doi-reference
Singleton rapid long-read genome sequencing as first tier genetic test for critically ill children with suspected genetic diseases
10.1038/s41431-025-01818-9 · doi-reference
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
10.1126/scitranslmed.aat6177 · doi-reference
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk
10.1016/j.gimo.2024.101833 · doi-reference
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
10.1016/j.xhgg.2021.100075 · doi-reference
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
10.1038/s41436-020-01096-4 · doi-reference
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
10.1038/s41587-022-01221-5 · doi-reference
Ultrarapid nanopore genome sequencing in a critical care setting
10.1056/nejmc2112090 · doi-reference
Scalable nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
10.1038/s41592-023-01993-x · doi-reference
The implementation of genome sequencing in rare genetic diseases diagnosis: A pilot study from the Hong Kong genome project
10.1016/j.lanwpc.2025.101473 · doi-reference
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
10.1038/s41467-025-57695-9 · doi-reference
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
10.1016/j.ajhg.2025.01.002 · doi-reference
Molecular dissection of structural variations involved in antithrombin deficiency
10.1016/j.jmoldx.2022.01.009 · doi-reference
Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy
10.1016/j.jns.2017.08.3500 · doi-reference
Targeted long-read sequencing as a single assay improves the diagnosis of spastic-ataxia disorders
10.1101/2024.09.04.24312938 · doi-reference
