Population-scale long-read whole-genome sequencing of UK Biobank participants using Oxford Nanopore
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A large-scale effort is underway to sequence 50,000 UK Biobank participants with Oxford Nanopore whole-genome sequencing on PromethION devices, in collaboration with Amgen’s deCODE genetics. This poster presents the first pre-release data from ~5,000 high-coverage samples. It shows how a single dataset delivers genetic variation, structural variation, haplotype-resolved assemblies, and DNA methylation across a population-scale cohort.
Download this poster to discover:
- How sequencing quality stayed consistent across thousands of genomes, over more than a year of sequencing
- How long nanopore reads reach traditionally difficult genomic regions and phase most variants, CpGs, and genes
- How structural variant discovery across ~3,800 genomes reveals variation beyond what short-read sequencing can resolve
- How haplotype-resolved assemblies resolve structurally complex loci, such as the LPA gene
- How genome-wide methylation profiling comes from the same reads, with no additional wet lab steps
- How the dataset will support genetic and epigenetic association analyses, with access planned through the UK Biobank Research Analysis Platform
