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Variant calling

Publication
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
February 11 2026
Case study
Case study: high-quality bacterial genome without the complexity
February 5 2026
Publication
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision-making
October 20 2025
Publication
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
October 16 2025
Poster
Resolving challenging medically-relevant genes using nanopore sequencing
October 14 2025
Poster
Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies
October 14 2025
Brochure
Flyer: Oxford Nanopore 24-hour whole-genome sequencing for paediatric rare disease research
September 17 2025
Workflow
Protocol overview: interaction-free whole-genome sequencing
September 15 2025
Publication
Long-read whole-genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic ASD in India
August 20 2025
Workflow
Workflow overview: pharmacogenomics with adaptive sampling
August 5 2025
Publication
The Platinum Pedigree: a long-read benchmark for genetic variants
August 4 2025
Workflow
Workflow overview: large cohort sequencing
July 28 2025
Workflow
Workflow overview: tumour-normal sequencing
July 21 2025
Poster
Multiomics whole-genome characterisation of a cancer genome using Oxford Nanopore sequencing
May 20 2025
Brochure
Flyer: pharmacogenomics with Twist
May 6 2025
Workflow
Workflow overview: human variant calling
April 29 2025
Brochure
Flyer: methylation detection
April 11 2025
Publication
ClairS-TO: a deep-learning method for long-read tumour-only somatic small variant calling
March 13 2025
Publication
Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
February 25 2025
Getting started guide
Getting started guide: single-cell transcriptomics
February 24 2025

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Resource Centre

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications

Case study: high-quality bacterial genome without the complexity

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision-making

Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic

Resolving challenging medically-relevant genes using nanopore sequencing

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

Flyer: Oxford Nanopore 24-hour whole-genome sequencing for paediatric rare disease research

Protocol overview: interaction-free whole-genome sequencing

Long-read whole-genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic ASD in India

Workflow overview: pharmacogenomics with adaptive sampling

The Platinum Pedigree: a long-read benchmark for genetic variants

Workflow overview: large cohort sequencing

Workflow overview: tumour-normal sequencing

Multiomics whole-genome characterisation of a cancer genome using Oxford Nanopore sequencing

Flyer: pharmacogenomics with Twist

Workflow overview: human variant calling

Flyer: methylation detection

ClairS-TO: a deep-learning method for long-read tumour-only somatic small variant calling

Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders

Getting started guide: single-cell transcriptomics

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