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Structural variation

Workflow
Workflow overview: tumour-normal sequencing
July 21 2025
Workflow
Workflow overview: 24-hour human whole-genome sequencing
September 17 2025
Workflow
Workflow overview: large cohort sequencing
July 28 2025
Workflow
Workflow overview: human variant calling
April 29 2025
Publication
The whole is greater than the sum of its parts: long-read sequencing for solving clinical problems in haematology
January 23 2024
Video
Whole-genome insights: nanopore sequencing in neuropathology
May 19 2025
Poster
Whole-genome DNA sequencing using nanopore R10.4 promises best practice for single-cell variation detection and methylation profiling
May 19 2023
Bioinformatics tool
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
September 24 2021
Publication
Visualisation and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
August 15 2024
Publication
Verkko2: integrating proximity ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffold
December 26 2024
Publication
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis
May 2 2025
Publication
VACmap: an accurate long-read aligner for unravelling complex genomic rearrangements
May 7 2024
Publication
Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci
June 25 2020
Video
Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia
May 19 2025
Video
Using nanopore sequencing: from first principles to applications
October 9 2019
Poster
Unlocking the power of haplotype-based molecular breeding using long read DNA sequencing
May 19 2023
Poster
Understanding genetic variation in cancer using targeted long-read sequencing
September 26 2019
Case study
Case study: understanding the drivers of oncogenesis
September 14 2023
Publication
Ultrarapid nanopore genome sequencing in a critical care setting
January 12 2022
Video
Ultra-rich human data — variant analysis with EPI2ME
September 17 2024

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Resource Centre

Workflow overview: tumour-normal sequencing

Workflow overview: 24-hour human whole-genome sequencing

Workflow overview: large cohort sequencing

Workflow overview: human variant calling

The whole is greater than the sum of its parts: long-read sequencing for solving clinical problems in haematology

Whole-genome insights: nanopore sequencing in neuropathology

Whole-genome DNA sequencing using nanopore R10.4 promises best practice for single-cell variation detection and methylation profiling

Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment

Visualisation and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

Verkko2: integrating proximity ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffold

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

VACmap: an accurate long-read aligner for unravelling complex genomic rearrangements

Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci

Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia

Using nanopore sequencing: from first principles to applications

Unlocking the power of haplotype-based molecular breeding using long read DNA sequencing

Understanding genetic variation in cancer using targeted long-read sequencing

Case study: understanding the drivers of oncogenesis

Ultrarapid nanopore genome sequencing in a critical care setting

Ultra-rich human data — variant analysis with EPI2ME

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