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Human genomics

Workflow
Workflow overview: tumour-normal sequencing
July 21 2025
Workflow
Workflow overview: single-cell transcriptomics
February 24 2025
Workflow
Workflow overview: 24-hour human whole-genome sequencing
September 17 2025
Workflow
Workflow overview: pharmacogenomics with adaptive sampling
August 5 2025
Workflow
Workflow overview: large cohort sequencing
July 28 2025
Workflow
Workflow overview: human variant calling
April 29 2025
Workflow
Workflow overview: direct RNA sequencing
September 8 2025
Bioinformatics tool
Whole Human Genome Sequencing Project
June 20 2019
Bioinformatics tool
Wengan: Efficient and high quality hybrid de novo assembly of human genomes
November 25 2019
Video
Webinar in Spanish: Aumento potencial del rendimiento diagnóstico en genómica humana, gracias a la secuenciación por nanoporos
September 1 2023
Video
Scalable nanopore sequencing for Alzheimer’s research
May 3 2023
Video
Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants
June 26 2023
Video
Integrating 10x Genomics single-cell and spatial profiling with Oxford Nanopore long-read sequencing
January 19 2024
Video
Human genome sequencing on PromethION webinar
October 11 2018
Video
Core webinar: Comprehensive analysis of human variants and cancer genomes with multi-omic nanopore sequencing
February 29 2024
Case study
Wastewater sequencing — an early warning system for infectious disease outbreaks
November 10 2022
Bioinformatics tool
VIRUSBreakend: viral integration recognition using single breakends
December 11 2020
Bioinformatics tool
Verkko: telomere-to-telomere assembly of diploid chromosomes
June 26 2022
Video
Variant phasing for antisense oligonucleotide design using adaptive sampling
May 19 2025
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: single-cell transcriptomics

Workflow overview: 24-hour human whole-genome sequencing

Workflow overview: pharmacogenomics with adaptive sampling

Workflow overview: large cohort sequencing

Workflow overview: human variant calling

Workflow overview: direct RNA sequencing

Whole Human Genome Sequencing Project

Wengan: Efficient and high quality hybrid de novo assembly of human genomes

Webinar in Spanish: Aumento potencial del rendimiento diagnóstico en genómica humana, gracias a la secuenciación por nanoporos

Scalable nanopore sequencing for Alzheimer’s research

Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants

Integrating 10x Genomics single-cell and spatial profiling with Oxford Nanopore long-read sequencing

Human genome sequencing on PromethION webinar

Core webinar: Comprehensive analysis of human variants and cancer genomes with multi-omic nanopore sequencing

Wastewater sequencing — an early warning system for infectious disease outbreaks

VIRUSBreakend: viral integration recognition using single breakends

Verkko: telomere-to-telomere assembly of diploid chromosomes

Variant phasing for antisense oligonucleotide design using adaptive sampling

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

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