Literature DB >> 34183854

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.

Joseph D Szustakowski1, Suganthi Balasubramanian2, Erika Kvikstad1, Shareef Khalid2, Paola G Bronson3, Ariella Sasson1, Emily Wong4, Daren Liu2, J Wade Davis5, Carolina Haefliger6, A Katrina Loomis7, Rajesh Mikkilineni4, Hyun Ji Noh5, Samir Wadhawan1, Xiaodong Bai2, Alicia Hawes2, Olga Krasheninina2, Ricardo Ulloa2, Alex E Lopez2, Erin N Smith4, Jeffrey F Waring5, Christopher D Whelan3, Ellen A Tsai3, John D Overton2, William J Salerno2, Howard Jacob5, Sandor Szalma4, Heiko Runz3, Gregory Hinkle8, Paul Nioi8, Slavé Petrovski6, Melissa R Miller7, Aris Baras2, Lyndon J Mitnaul2, Jeffrey G Reid9.   

Abstract

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private-public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete the sequencing of exomes for all ~500,000 UKB participants. Here, we describe the early results from ~200,000 UKB participants and the features of this project that enabled its success. The biopharmaceutical industry has increasingly used human genetics to improve success in drug discovery. Recognizing the need for large-scale human genetics data, as well as the unique value of the data access and contribution terms of the UKB, the UKB-ESC was formed. As a result, exome data from 200,643 UKB enrollees are now available. These data include ~10 million exonic variants-a rich resource of rare coding variation that is particularly valuable for drug discovery. The UKB-ESC precompetitive collaboration has further strengthened academic and industry ties and has provided teams with an opportunity to interact with and learn from the wider research community.
© 2021. Springer Nature America, Inc.

Entities:  

Mesh:

Year:  2021        PMID: 34183854     DOI: 10.1038/s41588-021-00885-0

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  1 in total

1.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

  1 in total
  53 in total

1.  Exome-wide screening identifies novel rare risk variants for major depression disorder.

Authors:  Shiqiang Cheng; Bolun Cheng; Li Liu; Xuena Yang; Peilin Meng; Yao Yao; Chuyu Pan; Jingxi Zhang; Chun'e Li; Huijie Zhang; Yujing Chen; Zhen Zhang; Yan Wen; Yumeng Jia; Feng Zhang
Journal:  Mol Psychiatry       Date:  2022-04-01       Impact factor: 15.992

2.  Effect of Loss-of-Function Genetic Variants in PCSK9 on Glycemic Traits, Neurocognitive Impairment, and Hepatobiliary Function.

Authors:  Jonas Ghouse; Gustav Ahlberg; Henning Bundgaard; Morten S Olesen
Journal:  Diabetes Care       Date:  2022-01-01       Impact factor: 19.112

3.  Mutation saturation for fitness effects at human CpG sites.

Authors:  Ipsita Agarwal; Molly Przeworski
Journal:  Elife       Date:  2021-11-22       Impact factor: 8.140

4.  Clinical translation of hidradenitis suppurativa genetic studies requires global collaboration.

Authors:  A J Jabbour; K R van Straalen; A Colvin; E P Prens; L Petukhova
Journal:  Br J Dermatol       Date:  2021-11-08       Impact factor: 9.302

5.  Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Authors:  Jack M Fu; F Kyle Satterstrom; Minshi Peng; Harrison Brand; Ryan L Collins; Shan Dong; Brie Wamsley; Lambertus Klei; Lily Wang; Stephanie P Hao; Christine R Stevens; Caroline Cusick; Mehrtash Babadi; Eric Banks; Brett Collins; Sheila Dodge; Stacey B Gabriel; Laura Gauthier; Samuel K Lee; Lindsay Liang; Alicia Ljungdahl; Behrang Mahjani; Laura Sloofman; Andrey N Smirnov; Mafalda Barbosa; Catalina Betancur; Alfredo Brusco; Brian H Y Chung; Edwin H Cook; Michael L Cuccaro; Enrico Domenici; Giovanni Battista Ferrero; J Jay Gargus; Gail E Herman; Irva Hertz-Picciotto; Patricia Maciel; Dara S Manoach; Maria Rita Passos-Bueno; Antonio M Persico; Alessandra Renieri; James S Sutcliffe; Flora Tassone; Elisabetta Trabetti; Gabriele Campos; Simona Cardaropoli; Diana Carli; Marcus C Y Chan; Chiara Fallerini; Elisa Giorgio; Ana Cristina Girardi; Emily Hansen-Kiss; So Lun Lee; Carla Lintas; Yunin Ludena; Rachel Nguyen; Lisa Pavinato; Margaret Pericak-Vance; Isaac N Pessah; Rebecca J Schmidt; Moyra Smith; Claudia I S Costa; Slavica Trajkova; Jaqueline Y T Wang; Mullin H C Yu; David J Cutler; Silvia De Rubeis; Joseph D Buxbaum; Mark J Daly; Bernie Devlin; Kathryn Roeder; Stephan J Sanders; Michael E Talkowski
Journal:  Nat Genet       Date:  2022-08-18       Impact factor: 41.307

6.  The impact of Mendelian sleep and circadian genetic variants in a population setting.

Authors:  Michael N Weedon; Samuel E Jones; Jacqueline M Lane; Jiwon Lee; Hanna M Ollila; Amy Dawes; Jess Tyrrell; Robin N Beaumont; Timo Partonen; Ilona Merikanto; Stephen S Rich; Jerome I Rotter; Timothy M Frayling; Martin K Rutter; Susan Redline; Tamar Sofer; Richa Saxena; Andrew R Wood
Journal:  PLoS Genet       Date:  2022-09-22       Impact factor: 6.020

Review 7.  Multimodal biomedical AI.

Authors:  Julián N Acosta; Guido J Falcone; Pranav Rajpurkar; Eric J Topol
Journal:  Nat Med       Date:  2022-09-15       Impact factor: 87.241

8.  Analysis of 200,000 Exome-Sequenced UK Biobank Subjects Implicates Genes Involved in Increased and Decreased Risk of Hypertension.

Authors:  David Curtis
Journal:  Pulse (Basel)       Date:  2021-07-05

9.  Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.

Authors:  Iain S Forrest; Kumardeep Chaudhary; Ha My T Vy; Shantanu Bafna; Soyeon Kim; Hong-Hee Won; Ruth J F Loos; Judy Cho; Louis R Pasquale; Girish N Nadkarni; Ghislain Rocheleau; Ron Do
Journal:  Hum Mutat       Date:  2021-05-31       Impact factor: 4.700

10.  Genetic insights into biological mechanisms governing human ovarian ageing.

Authors:  Katherine S Ruth; Felix R Day; Jazib Hussain; Ana Martínez-Marchal; Catherine E Aiken; Ajuna Azad; Deborah J Thompson; Lucie Knoblochova; Hironori Abe; Jane L Tarry-Adkins; Javier Martin Gonzalez; Pierre Fontanillas; Annique Claringbould; Olivier B Bakker; Patrick Sulem; Robin G Walters; Chikashi Terao; Sandra Turon; Momoko Horikoshi; Kuang Lin; N Charlotte Onland-Moret; Aditya Sankar; Emil Peter Thrane Hertz; Pascal N Timshel; Vallari Shukla; Rehannah Borup; Kristina W Olsen; Paula Aguilera; Mònica Ferrer-Roda; Yan Huang; Stasa Stankovic; Paul R H J Timmers; Thomas U Ahearn; Behrooz Z Alizadeh; Elnaz Naderi; Irene L Andrulis; Alice M Arnold; Kristan J Aronson; Annelie Augustinsson; Stefania Bandinelli; Caterina M Barbieri; Robin N Beaumont; Heiko Becher; Matthias W Beckmann; Stefania Benonisdottir; Sven Bergmann; Murielle Bochud; Eric Boerwinkle; Stig E Bojesen; Manjeet K Bolla; Dorret I Boomsma; Nicholas Bowker; Jennifer A Brody; Linda Broer; Julie E Buring; Archie Campbell; Harry Campbell; Jose E Castelao; Eulalia Catamo; Stephen J Chanock; Georgia Chenevix-Trench; Marina Ciullo; Tanguy Corre; Fergus J Couch; Angela Cox; Laura Crisponi; Simon S Cross; Francesco Cucca; Kamila Czene; George Davey Smith; Eco J C N de Geus; Renée de Mutsert; Immaculata De Vivo; Ellen W Demerath; Joe Dennis; Alison M Dunning; Miriam Dwek; Mikael Eriksson; Tõnu Esko; Peter A Fasching; Jessica D Faul; Luigi Ferrucci; Nora Franceschini; Timothy M Frayling; Manuela Gago-Dominguez; Massimo Mezzavilla; Montserrat García-Closas; Christian Gieger; Graham G Giles; Harald Grallert; Daniel F Gudbjartsson; Vilmundur Gudnason; Pascal Guénel; Christopher A Haiman; Niclas Håkansson; Per Hall; Caroline Hayward; Chunyan He; Wei He; Gerardo Heiss; Miya K Høffding; John L Hopper; Jouke J Hottenga; Frank Hu; David Hunter; Mohammad A Ikram; Rebecca D Jackson; Micaella D R Joaquim; Esther M John; Peter K Joshi; David Karasik; Sharon L R Kardia; Christiana Kartsonaki; Robert Karlsson; Cari M Kitahara; Ivana Kolcic; Charles Kooperberg; Peter Kraft; Allison W Kurian; Zoltan Kutalik; Martina La Bianca; Genevieve LaChance; Claudia Langenberg; Lenore J Launer; Joop S E Laven; Deborah A Lawlor; Loic Le Marchand; Jingmei Li; Annika Lindblom; Sara Lindstrom; Tricia Lindstrom; Martha Linet; YongMei Liu; Simin Liu; Jian'an Luan; Reedik Mägi; Patrik K E Magnusson; Massimo Mangino; Arto Mannermaa; Brumat Marco; Jonathan Marten; Nicholas G Martin; Hamdi Mbarek; Barbara McKnight; Sarah E Medland; Christa Meisinger; Thomas Meitinger; Cristina Menni; Andres Metspalu; Lili Milani; Roger L Milne; Grant W Montgomery; Dennis O Mook-Kanamori; Antonella Mulas; Anna M Mulligan; Alison Murray; Mike A Nalls; Anne Newman; Raymond Noordam; Teresa Nutile; Dale R Nyholt; Andrew F Olshan; Håkan Olsson; Jodie N Painter; Alpa V Patel; Nancy L Pedersen; Natalia Perjakova; Annette Peters; Ulrike Peters; Paul D P Pharoah; Ozren Polasek; Eleonora Porcu; Bruce M Psaty; Iffat Rahman; Gad Rennert; Hedy S Rennert; Paul M Ridker; Susan M Ring; Antonietta Robino; Lynda M Rose; Frits R Rosendaal; Jacques Rossouw; Igor Rudan; Rico Rueedi; Daniela Ruggiero; Cinzia F Sala; Emmanouil Saloustros; Dale P Sandler; Serena Sanna; Elinor J Sawyer; Chloé Sarnowski; David Schlessinger; Marjanka K Schmidt; Minouk J Schoemaker; Katharina E Schraut; Christopher Scott; Saleh Shekari; Amruta Shrikhande; Albert V Smith; Blair H Smith; Jennifer A Smith; Rossella Sorice; Melissa C Southey; Tim D Spector; John J Spinelli; Meir Stampfer; Doris Stöckl; Joyce B J van Meurs; Konstantin Strauch; Unnur Styrkarsdottir; Anthony J Swerdlow; Toshiko Tanaka; Lauren R Teras; Alexander Teumer; Unnur Þorsteinsdottir; Nicholas J Timpson; Daniela Toniolo; Michela Traglia; Melissa A Troester; Thérèse Truong; Jessica Tyrrell; André G Uitterlinden; Sheila Ulivi; Celine M Vachon; Veronique Vitart; Uwe Völker; Peter Vollenweider; Henry Völzke; Qin Wang; Nicholas J Wareham; Clarice R Weinberg; David R Weir; Amber N Wilcox; Ko Willems van Dijk; Gonneke Willemsen; James F Wilson; Bruce H R Wolffenbuttel; Alicja Wolk; Andrew R Wood; Wei Zhao; Marek Zygmunt; Zhengming Chen; Liming Li; Lude Franke; Stephen Burgess; Patrick Deelen; Tune H Pers; Marie Louise Grøndahl; Claus Yding Andersen; Anna Pujol; Andres J Lopez-Contreras; Jeremy A Daniel; Kari Stefansson; Jenny Chang-Claude; Yvonne T van der Schouw; Kathryn L Lunetta; Daniel I Chasman; Douglas F Easton; Jenny A Visser; Susan E Ozanne; Satoshi H Namekawa; Petr Solc; Joanne M Murabito; Ken K Ong; Eva R Hoffmann; Anna Murray; Ignasi Roig; John R B Perry
Journal:  Nature       Date:  2021-08-04       Impact factor: 69.504

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.