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Structural variation

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Structural variation document repository
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Which library prep workflow is right for my experiment?Event video

Which library prep workflow is right for my experiment?

Whether you’re sequencing DNA, RNA, or cDNA, a single sample or many in multiplex, there’s an Oxford Nanopore library prep kit for you. In this masterclass, discover how ...

Understanding population-scale structural variation using long-read genomics | LC26Event video

Understanding population-scale structural variation using long-read genomics | LC26

Understanding structural variation (SV) across human populations and disease contexts requires both comprehensive sequencing and analytical frameworks that capture genomic complexity. This talk presents our recent work applying Oxford Nanopore ...

Ultra-rapid genomic profiling of pediatric brain tumors using whole-genome and targeted long-read sequencing | LC26Event video

Ultra-rapid genomic profiling of pediatric brain tumors using whole-genome and targeted long-read sequencing | LC26

The 2021 WHO classification of tumors of the central nervous system (CNS) made molecular testing and DNA methylation-based classification essential for diagnosing CNS tumors. However, traditional comprehensive genomic testing ...

Translating long-read sequencing into a scalable NHS bioinformatics workflow | LC26Event video

Translating long-read sequencing into a scalable NHS bioinformatics workflow | LC26

The North Thames Genomic Laboratory Hub is one of seven hubs providing National Health Service (NHS) genomic testing, including specialist testing for 14 disease areas for half of England. The ...

Targeted nanopore sequencing and an integrated analysis framework for neurogenomic disease | LC26Event video

Targeted nanopore sequencing and an integrated analysis framework for neurogenomic disease | LC26

Inherited neuromuscular and neurodegenerative disorders are difficult to diagnose due to extreme phenotypic and genetic heterogeneity. Key pathogenic mechanisms, including structural variation, short-tandem repeat (STR) expansions, and D4Z4 macrosatellite ...

Start the timer: how do I prepare a sequencing library in ten minutes?Event video

Start the timer: how do I prepare a sequencing library in ten minutes?

With our Rapid Sequencing Kit, you can go from extracted DNA to sequencing-ready library in just ten minutes. In this demo, discover how fast and simple the method is.

Reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencing | LC26Event video

Reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencing | LC26

Cancer genomes are characterized by complex karyotypes harboring somatic structural variants (SVs) and copy number alterations (CNAs). While long-read sequencing offers key advantages over short reads — including improved mappability ...

Real-time nanopore methylation and genomic profiling for pediatric cancer | LC26Event video

Real-time nanopore methylation and genomic profiling for pediatric cancer | LC26

Nanopore-based DNA methylation profiling has become a clinically deployable platform for real-time molecular cancer diagnostics. In pediatric neuro-oncology, we pioneered intraoperative methylation-based classification using nanopore sequencing ...

Rapid diagnosis of acute leukemia with integrated epigenomic and genomic profiling | LC26Event video

Rapid diagnosis of acute leukemia with integrated epigenomic and genomic profiling | LC26

Acute leukemia (AL) diagnosis is a time-consuming process that requires integration of multiple different diagnostic modalities, including morphology, immunophenotyping, and molecular genetics. Given this complexity, new approaches are needed ...

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