| Title: | Whole-genome sequencing of 490,640 UK Biobank participants |
| Journal: | Nature |
| Published: | 6 Aug 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40770095/ |
| DOI: | https://doi.org/10.1038/s41586-025-09272-9 |
| URL: | https://www.nature.com/articles/s41586-025-09272-9.pdf |
Publication 17764
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Abstract
Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without the technical limitations of other genotyping technologies. Here we report on whole-genome sequencing of 490,640 UK Biobank participants, building on previous genotyping effort1. This advance deepens our understanding of how genetics associates with disease biology and further enhances the value of this open resource for the study of human biology and health. Coupling this dataset with rich phenotypic data, we surveyed within- and cross-ancestry genomic associations and identified novel genetic and clinical insights. Although most associations with disease traits were primarily observed in individuals of European ancestries, strong or novel signals were also identified in individuals of African and Asian ancestries. With the improved ability to accurately genotype structural variants and exonic variation in both coding and UTR sequences, we strengthened and revealed novel insights relative to whole-exome sequencing2,3 analyses. This dataset, representing a large collection of whole-genome sequencing data that is available to the UK Biobank research community, will enable advances of our understanding of the human genome, facilitate the discovery of diagnostics and therapeutics with higher efficacy and improved safety profile, and enable precision medicine strategies with the potential to improve global health.</p>
208 Authors
- Keren Carss
- Bjarni V. Halldorsson
- Liping Hou
- Jimmy Liu
- Eleanor Wheeler
- Yancy Lo
- Kousik Kundu
- Zhuoyi Huang
- Ben Lacey
- Ryan S. Dhindsa
- Diana Rajan
- Jelena Randjelovic
- Neil Marriott
- Carol E. Scott
- Ahmet Sinan Yavuz
- Ian Johnston
- Trevor Howe
- Mary Helen Black
- Kari Stefansson
- Robert Scott
- Slavé Petrovski
- Shuwei Li
- Adrian Cortes
- Fengyuan Hu
- Quanli Wang
- Oliver S. Burren
- Sri V. V. Deevi
- Carolina Haefliger
- Kieren Lythgow
- Peter H. Maccallum
- Karyn Mégy
- Jonathan Mitchell
- Sean O'Dell
- Amanda O'Neill
- Katherine R. Smith
- Haeyam Taiy
- Menelas Pangalos
- Ruth March
- Sebastian Wasilewski
- Hannes P. Eggertsson
- Kristjan H. S. Moore
- Hannes Hauswedell
- Ogmundur Eiriksson
- Aron Skaftason
- Nokkvi Gislason
- Svanhvit Sigurjonsdottir
- Magnus O. Ulfarsson
- Gunnar Palsson
- Marteinn T. Hardarson
- Asmundur Oddsson
- Brynjar O. Jensson
- Snaedis Kristmundsdottir
- Brynja D. Sigurpalsdottir
- Olafur A. Stefansson
- Doruk Beyter
- Guillaume Holley
- Vinicius Tragante
- Arnaldur Gylfason
- Pall I. Olason
- Florian Zink
- Margret Asgeirsdottir
- Sverrir T. Sverrisson
- Brynjar Sigurdsson
- Sigurjon A. Gudjonsson
- Gunnar T. Sigurdsson
- Gisli H. Halldorsson
- Gardar Sveinbjornsson
- Unnur Styrkarsdottir
- Droplaug N. Magnusdottir
- Steinunn Snorradottir
- Kari Kristinsson
- Emilia Sobech
- Gudmar Thorleifsson
- Frosti Jonsson
- Pall Melsted
- Ingileif Jonsdottir
- Thorunn Rafnar
- Hilma Holm
- Hreinn Stefansson
- Jona Saemundsdottir
- Daniel F. Gudbjartsson
- Olafur T. Magnusson
- Gisli Masson
- Unnur Thorsteinsdottir
- Agnar Helgason
- Hakon Jonsson
- Patrick Sulem
- Jatin Sandhuria
- Tom G. Richardson
- Laurence Howe
- Chloe Robins
- Dongjing Liu
- Patrick Albers
- Mariana Pereira
- Daniel Seaton
- Yury Aulchenko
- John Whittaker
- Manolis Dermitzakis
- Toby Johnson
- Jonathan Davitte
- Erik Ingelsson
- Julio Molineros
- Yanfei Zhang
- Alexander H. Li
- Evan H. Baugh
- Elisabeth Mlynarski
- Abolfazl Doostparast Torshizi
- Gamal Abdel-Azim
- Brian Mautz
- Karen Y. He
- Jingyue Xi
- Shirley Nieves-Rodriguez
- Asif Khan
- Songjun Xu
- Xingjun Liu
- Brice Sarver
- Dongnhu Truong
- Mohamed-Ramzi Temanni
- Christopher D. Whelan
- Letizia Goretti
- Najat Khan
- Belen Fraile
- Tommaso Mansi
- Guna Rajagopal
- Shaheen Akhtar
- Siobhan Austin-Guest
- Robert Barber
- Daniel Barrett
- Tristram Bellerby
- Adrian Clarke
- Richard Clark
- Maria Coppola
- Linda Cornwell
- Abby Crackett
- Joseph Dawson
- Callum Day
- Alexander Dove
- Jillian Durham
- Robert Fairweather
- Marcella Ferrero
- Michael Fenton
- Howerd Fordham
- Audrey Fraser
- Paul Heath
- Emily Heron
- Gary Hornett
- Lena Hughes-Hallett
- David K. Jackson
- Alexander Jakubowski Smith
- Adam Laverack
- Katharine Law
- Steven R. Leonard
- Kevin Lewis
- Jennifer Liddle
- Alice Lindsell
- Sally Linsdell
- Jamie Lovell
- James Mack
- Henry Mallalieu
- Irfaan Mamun
- Ana Monteiro
- Leanne Morrow
- Barbora Pardubska
- Alexandru Popov
- Lisa Sloper
- Jan Squares
- Ian Still
- Oprah Taylor
- Sam Taylor
- Jaime M. Tovar Corona
- Elliott Trigg
- Valerie Vancollie
- Paul Voak
- Danni Weldon
- Alan Wells
- Eloise Wells
- Mia Williams
- Sean Wright
- Nevena Miletic
- Lea Lenhardt Ackovic
- Marijeta Slavkovic-Ilic
- Mladen Lazarevic
- Louise Aigrain
- Nicholas Redshaw
- Michael Quail
- Lesley Shirley
- Scott Thurston
- Peter Ellis
- Laura Grout
- Natalie Smerdon
- Emma Gray
- Richard Rance
- Cordelia Langford
- Rory Collins
- Mark Effingham
- Naomi Allen
- Jonathan Sellors
- Simon Sheard
- Mahesh Pancholi
- Caroline Clark
- Lucy Burkitt-Gray
- Samantha Welsh
- Daniel Fry
- Rachel Watson
- Lauren Carson
- Alan Young
- Rami Mehio
- Ole Schulz-Trieglaff
1 Application
| Application ID | Title |
|---|---|
| 52293 | Large-scale whole genome sequencing of the UK Biobank cohort to generate and evaluate therapeutic hypotheses regarding targets, biomarkers and pathways implicated in disease |
Enabling scientific discoveries that improve human health