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630 results

Structural variation

Poster
Poster: structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing
March 9 2026
Publication
Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis
February 26 2026
Publication
Flexible and rapid validation of structural variation using adaptive sampling
February 23 2026
Publication
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
January 22 2026
Publication
Long-read genome sequencing enhances diagnostics of paediatric neurological disorders
January 9 2026
Video
Revealing hidden genomic variation in Parkinson’s disease
November 18 2025
Publication
Oxford Nanopore Technologies [ONT] sequencing: clinical validation in genetically heterogeneous disorders
November 3 2025
Publication
Pre-phasing long reads improves structural variant genotyping
October 24 2025
Publication
Long-read genome sequencing and multi-omics in ageing and neurodegeneration
October 15 2025
Poster
Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies
October 14 2025
Publication
Single-workflow nanopore whole-genome sequencing with adaptive sampling for accelerated and comprehensive paediatric cancer profiling
October 3 2025
Case study
Testimonial: Yaw Bediako
September 30 2025
Publication
Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia
September 30 2025
Publication
Enhancing CYP2D6 genotyping with nanopore sequencing to address allele diversity P. vivax malaria elimination
September 30 2025
Workflow
Workflow overview: 24-hour human whole-genome sequencing
September 17 2025
Getting started guide
Getting started guide: human genomics
September 17 2025
Application note
Application note: Comprehensive genomic and epigenomic profiling with the Oxford Nanopore Hereditary Cancer Panel
September 16 2025
Workflow
Protocol overview: interaction-free whole-genome sequencing
September 15 2025
Publication
Identification of non-coding causative variant underlying Warsaw Breakage syndrome using long-read based genomic sequencing and transcriptome analysis
September 12 2025
Publication
Long-read single-cell genome, transcriptome and open chromatin profiling links genotype to phenotypes
September 9 2025

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Poster: structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing

Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis

Flexible and rapid validation of structural variation using adaptive sampling

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

Long-read genome sequencing enhances diagnostics of paediatric neurological disorders

Revealing hidden genomic variation in Parkinson’s disease

Oxford Nanopore Technologies [ONT] sequencing: clinical validation in genetically heterogeneous disorders

Pre-phasing long reads improves structural variant genotyping

Long-read genome sequencing and multi-omics in ageing and neurodegeneration

Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies

Single-workflow nanopore whole-genome sequencing with adaptive sampling for accelerated and comprehensive paediatric cancer profiling

Testimonial: Yaw Bediako

Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia

Enhancing CYP2D6 genotyping with nanopore sequencing to address allele diversity P. vivax malaria elimination

Workflow overview: 24-hour human whole-genome sequencing

Getting started guide: human genomics

Application note: Comprehensive genomic and epigenomic profiling with the Oxford Nanopore Hereditary Cancer Panel

Protocol overview: interaction-free whole-genome sequencing

Identification of non-coding causative variant underlying Warsaw Breakage syndrome using long-read based genomic sequencing and transcriptome analysis

Long-read single-cell genome, transcriptome and open chromatin profiling links genotype to phenotypes

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