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Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

Nature, Published online: 04 February 2026; doi:10.1038/s41586-025-10087-x

A multiancestry phenome-wide analysis of copy number variants in the UK Biobank genomes increases power to detect genetic associations with complex traits across human populations.

Whole-genome sequencing of 490,640 UK Biobank participants

Nature, Published online: 06 August 2025; doi:10.1038/s41586-025-09272-9

A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

Rare variant associations with plasma protein levels in the UK Biobank

Nature, Published online: 04 October 2023; doi:10.1038/s41586-023-06547-x

A set of three papers in Nature reports a new proteomics resource from the UK Biobank and initial analysis of common and rare genetic variant associations with plasma protein levels.

Plasma proteomic associations with genetics and health in the UK Biobank

Nature, Published online: 04 October 2023; doi:10.1038/s41586-023-06592-6

The Pharma Proteomics Project generates the largest open-access plasma proteomics dataset to date, offering insights into trans protein quantitative trait loci across multiple biological domains, and highlighting genetic influences on ligand–receptor interactions and pathway perturbations across a diverse collection of cytokines and complement networks.
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