Whole-genome sequencing of 490,640 UK Biobank participants
Abstract
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.
Article Details
Authors (208)
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 Megy
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