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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
Video
William Jeck: Nanopore sequencing and rapid fusion testing – a ‘killer app’ in molecular pathology
December 14 2018
Publication
The whole is greater than the sum of its parts: long-read sequencing for solving clinical problems in haematology
January 23 2024
Publication
Whole-genome sequencing of rare disease patients in a national healthcare system
February 18 2020
Publication
Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer
April 29 2021
Poster
Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variation
May 15 2023
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
Publication
Webinar: Structural variants in the French-Canadian population
October 30 2020
Video
Webinar - Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypes
January 10 2020
Bioinformatics tool
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
September 24 2021
Publication
Virus-derived variation in diverse human genomes
November 20 2020
Publication
Virtual Nanopore Day, Australia - Rare Disease and Neurology
February 11 2021
Video
Virtual Nanopore Day, Edinburgh
November 25 2020
Video
Cloud computing for clinical nanopore fusion detection
September 8 2021
Publication
Variants at the ASIP locus contribute to coat color darkening in Nellore cattle
April 28 2021
Publication
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis
May 2 2025

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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

William Jeck: Nanopore sequencing and rapid fusion testing – a ‘killer app’ in molecular pathology

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

Whole-genome sequencing of rare disease patients in a national healthcare system

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variation

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

Webinar: Structural variants in the French-Canadian population

Webinar - Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypes

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

Virus-derived variation in diverse human genomes

Virtual Nanopore Day, Australia - Rare Disease and Neurology

Virtual Nanopore Day, Edinburgh

Cloud computing for clinical nanopore fusion detection

Variants at the ASIP locus contribute to coat color darkening in Nellore cattle

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

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