Literature DB >> 32243820

Genotyping Array Design and Data Quality Control in the Million Veteran Program.

Haley Hunter-Zinck1, Yunling Shi1, Man Li2, Bryan R Gorman3, Sun-Gou Ji4, Ning Sun5, Teresa Webster6, Andrew Liem3, Paul Hsieh1, Poornima Devineni1, Purushotham Karnam1, Xin Gong1, Lakshmi Radhakrishnan6, Jeanette Schmidt6, Themistocles L Assimes7, Jie Huang1, Cuiping Pan7, Donald Humphries1, Mary Brophy1, Jennifer Moser8, Sumitra Muralidhar8, Grant D Huang8, Ronald Przygodzki8, John Concato5, John M Gaziano9, Joel Gelernter5, Christopher J O'Donnell1, Elizabeth R Hauser10, Hongyu Zhao5, Timothy J O'Leary8, Philip S Tsao7, Saiju Pyarajan11.   

Abstract

The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availability of extensive VA electronic health records, make it a promising resource for precision medicine. MVP is conducting array-based genotyping to provide a genome-wide scan of the entire cohort, in parallel with whole-genome sequencing, methylation, and other 'omics assays. Here, we present the design and performance of the MVP 1.0 custom Axiom array, which was designed and developed as a single assay to be used across the multi-ethnic MVP cohort. A unified genetic quality-control analysis was developed and conducted on an initial tranche of 485,856 individuals, leading to a high-quality dataset of 459,777 unique individuals. 668,418 genetic markers passed quality control and showed high-quality genotypes not only on common variants but also on rare variants. We confirmed that, with non-European individuals making up nearly 30%, MVP's substantial ancestral diversity surpasses that of other large biobanks. We also demonstrated the quality of the MVP dataset by replicating established genetic associations with height in European Americans and African Americans ancestries. This current dataset has been made available to approved MVP researchers for genome-wide association studies and other downstream analyses. Further data releases will be available for analysis as recruitment at the VA continues and the cohort expands both in size and diversity. Published by Elsevier Inc.

Entities:  

Keywords:  GWAS; Million Veteran Program; SNP array design; VA; biobank; clinical variants; genetic ancestry; genetic relatedness; genotype data; quality control

Mesh:

Substances:

Year:  2020        PMID: 32243820      PMCID: PMC7118558          DOI: 10.1016/j.ajhg.2020.03.004

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  26 in total

1.  Population Structure of UK Biobank and Ancient Eurasians Reveals Adaptation at Genes Influencing Blood Pressure.

Authors:  Kevin J Galinsky; Po-Ru Loh; Swapan Mallick; Nick J Patterson; Alkes L Price
Journal:  Am J Hum Genet       Date:  2016-10-20       Impact factor: 11.025

Review 2.  Clinical use of current polygenic risk scores may exacerbate health disparities.

Authors:  Alicia R Martin; Masahiro Kanai; Yoichiro Kamatani; Yukinori Okada; Benjamin M Neale; Mark J Daly
Journal:  Nat Genet       Date:  2019-03-29       Impact factor: 38.330

3.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

4.  Genome partitioning of genetic variation for complex traits using common SNPs.

Authors:  Jian Yang; Teri A Manolio; Louis R Pasquale; Eric Boerwinkle; Neil Caporaso; Julie M Cunningham; Mariza de Andrade; Bjarke Feenstra; Eleanor Feingold; M Geoffrey Hayes; William G Hill; Maria Teresa Landi; Alvaro Alonso; Guillaume Lettre; Peng Lin; Hua Ling; William Lowe; Rasika A Mathias; Mads Melbye; Elizabeth Pugh; Marilyn C Cornelis; Bruce S Weir; Michael E Goddard; Peter M Visscher
Journal:  Nat Genet       Date:  2011-05-08       Impact factor: 38.330

5.  Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Authors:  Yambazi Banda; Mark N Kvale; Thomas J Hoffmann; Stephanie E Hesselson; Dilrini Ranatunga; Hua Tang; Chiara Sabatti; Lisa A Croen; Brad P Dispensa; Mary Henderson; Carlos Iribarren; Eric Jorgenson; Lawrence H Kushi; Dana Ludwig; Diane Olberg; Charles P Quesenberry; Sarah Rowell; Marianne Sadler; Lori C Sakoda; Stanley Sciortino; Ling Shen; David Smethurst; Carol P Somkin; Stephen K Van Den Eeden; Lawrence Walter; Rachel A Whitmer; Pui-Yan Kwok; Catherine Schaefer; Neil Risch
Journal:  Genetics       Date:  2015-06-19       Impact factor: 4.562

6.  Second-generation PLINK: rising to the challenge of larger and richer datasets.

Authors:  Christopher C Chang; Carson C Chow; Laurent Cam Tellier; Shashaank Vattikuti; Shaun M Purcell; James J Lee
Journal:  Gigascience       Date:  2015-02-25       Impact factor: 6.524

7.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

8.  Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.

Authors:  Slavé Petrovski; David B Goldstein
Journal:  Genome Biol       Date:  2016-07-14       Impact factor: 13.583

Review 9.  Inferring ancestry from population genomic data and its applications.

Authors:  Badri Padhukasahasram
Journal:  Front Genet       Date:  2014-07-03       Impact factor: 4.599

10.  The UK Biobank resource with deep phenotyping and genomic data.

Authors:  Clare Bycroft; Colin Freeman; Desislava Petkova; Gavin Band; Lloyd T Elliott; Kevin Sharp; Allan Motyer; Damjan Vukcevic; Olivier Delaneau; Jared O'Connell; Adrian Cortes; Samantha Welsh; Alan Young; Mark Effingham; Gil McVean; Stephen Leslie; Naomi Allen; Peter Donnelly; Jonathan Marchini
Journal:  Nature       Date:  2018-10-10       Impact factor: 49.962

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  29 in total

Review 1.  Maturation and application of phenome-wide association studies.

Authors:  Shiying Liu; Dana C Crawford
Journal:  Trends Genet       Date:  2022-01-03       Impact factor: 11.639

2.  APOL1 Risk Variants, Acute Kidney Injury, and Death in Participants With African Ancestry Hospitalized With COVID-19 From the Million Veteran Program.

Authors:  Adriana M Hung; Shailja C Shah; Alexander G Bick; Zhihong Yu; Hua-Chang Chen; Christine M Hunt; Frank Wendt; Otis Wilson; Robert A Greevy; Cecilia P Chung; Ayako Suzuki; Yuk-Lam Ho; Elvis Akwo; Renato Polimanti; Jin Zhou; Peter Reaven; Philip S Tsao; J Michael Gaziano; Jennifer E Huffman; Jacob Joseph; Shiuh-Wen Luoh; Sudha Iyengar; Kyong-Mi Chang; Juan P Casas; Michael E Matheny; Christopher J O'Donnell; Kelly Cho; Ran Tao; Katalin Susztak; Cassianne Robinson-Cohen; Sony Tuteja; Edward D Siew
Journal:  JAMA Intern Med       Date:  2022-04-01       Impact factor: 21.873

3.  Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults.

Authors:  Nels C Olson; Laura M Raffield; Anne H Moxley; Tyne W Miller-Fleming; Paul L Auer; Nora Franceschini; Debby Ngo; Timothy A Thornton; Ethan M Lange; Yun Li; Deborah A Nickerson; Neil A Zakai; Robert E Gerszten; Nancy J Cox; Adolfo Correa; Karen L Mohlke; Alexander P Reiner
Journal:  Circ Genom Precis Med       Date:  2021-10-28

4.  Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.

Authors:  Catherine Tcheandjieu; Xiang Zhu; Austin T Hilliard; Shoa L Clarke; Valerio Napolioni; Shining Ma; Kyung Min Lee; Huaying Fang; Fei Chen; Yingchang Lu; Noah L Tsao; Sridharan Raghavan; Satoshi Koyama; Bryan R Gorman; Marijana Vujkovic; Derek Klarin; Michael G Levin; Nasa Sinnott-Armstrong; Genevieve L Wojcik; Mary E Plomondon; Thomas M Maddox; Stephen W Waldo; Alexander G Bick; Saiju Pyarajan; Jie Huang; Rebecca Song; Yuk-Lam Ho; Steven Buyske; Charles Kooperberg; Jeffrey Haessler; Ruth J F Loos; Ron Do; Marie Verbanck; Kumardeep Chaudhary; Kari E North; Christy L Avery; Mariaelisa Graff; Christopher A Haiman; Loïc Le Marchand; Lynne R Wilkens; Joshua C Bis; Hampton Leonard; Botong Shen; Leslie A Lange; Ayush Giri; Ozan Dikilitas; Iftikhar J Kullo; Ian B Stanaway; Gail P Jarvik; Adam S Gordon; Scott Hebbring; Bahram Namjou; Kenneth M Kaufman; Kaoru Ito; Kazuyoshi Ishigaki; Yoichiro Kamatani; Shefali S Verma; Marylyn D Ritchie; Rachel L Kember; Aris Baras; Luca A Lotta; Sekar Kathiresan; Elizabeth R Hauser; Donald R Miller; Jennifer S Lee; Danish Saleheen; Peter D Reaven; Kelly Cho; J Michael Gaziano; Pradeep Natarajan; Jennifer E Huffman; Benjamin F Voight; Daniel J Rader; Kyong-Mi Chang; Julie A Lynch; Scott M Damrauer; Peter W F Wilson; Hua Tang; Yan V Sun; Philip S Tsao; Christopher J O'Donnell; Themistocles L Assimes
Journal:  Nat Med       Date:  2022-08-01       Impact factor: 87.241

Review 5.  Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.

Authors:  Ozan Dikilitas; Daniel J Schaid; Catherine Tcheandjieu; Shoa L Clarke; Themistocles L Assimes; Iftikhar J Kullo
Journal:  Curr Cardiol Rep       Date:  2022-07-07       Impact factor: 3.955

6.  Understanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records.

Authors:  Renato Polimanti; Frank R Wendt; Gita A Pathak; Daniel S Tylee; Catherine Tcheandjieu; Austin T Hilliard; Daniel F Levey; Keyrun Adhikari; J Michael Gaziano; Christopher J O'Donnell; Themistocles L Assimes; Murray B Stein; Joel Gelernter
Journal:  Mol Psychiatry       Date:  2022-08-19       Impact factor: 13.437

7.  Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System.

Authors:  Tim B Bigdeli; Georgios Voloudakis; Peter B Barr; Bryan R Gorman; Giulio Genovese; Roseann E Peterson; David E Burstein; Vlad I Velicu; Yuli Li; Rishab Gupta; Manuel Mattheisen; Simone Tomasi; Nallakkandi Rajeevan; Frederick Sayward; Krishnan Radhakrishnan; Sundar Natarajan; Anil K Malhotra; Yunling Shi; Hongyu Zhao; Thomas R Kosten; John Concato; Timothy J O'Leary; Ronald Przygodzki; Theresa Gleason; Saiju Pyarajan; Mary Brophy; Grant D Huang; Sumitra Muralidhar; J Michael Gaziano; Mihaela Aslan; Ayman H Fanous; Philip D Harvey; Panos Roussos
Journal:  JAMA Psychiatry       Date:  2022-09-14       Impact factor: 25.911

8.  Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.

Authors:  Tanmoy Roychowdhury; Haocheng Lu; Whitney E Hornsby; Bradley Crone; Gao T Wang; Dong-Chuan Guo; Anoop K Sendamarai; Poornima Devineni; Maoxuan Lin; Wei Zhou; Sarah E Graham; Brooke N Wolford; Ida Surakka; Zhenguo Wang; Lin Chang; Jifeng Zhang; Michael Mathis; Chad M Brummett; Tori L Melendez; Michael J Shea; Karen Meekyong Kim; G Michael Deeb; Himanshu J Patel; Jonathan Eliason; Kim A Eagle; Bo Yang; Santhi K Ganesh; Ben Brumpton; Bjørn Olav Åsvold; Anne Heidi Skogholt; Kristian Hveem; Saiju Pyarajan; Derek Klarin; Philip S Tsao; Scott M Damrauer; Suzanne M Leal; Dianna M Milewicz; Y Eugene Chen; Minerva T Garcia-Barrio; Cristen J Willer
Journal:  Am J Hum Genet       Date:  2021-07-14       Impact factor: 11.025

9.  Polygenic Breast Cancer Risk for Women Veterans in the Million Veteran Program.

Authors:  Jessica Minnier; Nallakkandi Rajeevan; Lina Gao; Byung Park; Saiju Pyarajan; Paul Spellman; Sally G Haskell; Cynthia A Brandt; Shiuh-Wen Luoh
Journal:  JCO Precis Oncol       Date:  2021-07-21

10.  Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry.

Authors:  Benjamin A Satterfield; Ozan Dikilitas; Maya S Safarova; Shoa L Clarke; Catherine Tcheandjieu; Xiang Zhu; Lisa Bastarache; Eric B Larson; Anne E Justice; Ning Shang; Elisabeth A Rosenthal; Amy Sanghavi Shah; Bahram Namjou-Khales; Elaine M Urbina; Wei-Qi Wei; QiPing Feng; Gail P Jarvik; Scott J Hebbring; Mariza de Andrade; Teri A Manolio; Themistocles L Assimes; Iftikhar J Kullo
Journal:  Circ Genom Precis Med       Date:  2021-07-20
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