Literature DB >> 26201699

Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits.

Dana C Crawford1, Robert Goodloe, Eric Farber-Eger, Jonathan Boston, Sarah A Pendergrass, Jonathan L Haines, Marylyn D Ritchie, William S Bush.   

Abstract

BACKGROUND/AIMS: Present-day limited resources demand DNA and phenotyping alternatives to the traditional prospective population-based epidemiologic collections.
METHODS: To accelerate genomic discovery with an emphasis on diverse populations, we--as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study--accessed all non-European American samples (n = 15,863) available in BioVU, the Vanderbilt University biorepository linked to de-identified electronic medical records, for genomic studies as part of the larger Population Architecture using Genomics and Epidemiology (PAGE) I study. Given previous studies have cautioned against the secondary use of clinically collected data compared with epidemiologically collected data, we present here a characterization of EAGLE BioVU, including the billing and diagnostic (ICD-9) code distributions for adult and pediatric patients as well as comparisons made for select health metrics (body mass index, glucose, HbA1c, HDL-C, LDL-C, and triglycerides) with the population-based National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples (NHANES III, n = 7,159; NHANES 1999-2002, n = 7,839).
RESULTS: Overall, the distributions of billing and diagnostic codes suggest this clinical sample is a mixture of healthy and sick patients like that expected for a contemporary American population.
CONCLUSION: Little bias is observed among health metrics, suggesting this clinical collection is suitable for genomic studies along with traditional epidemiologic cohorts. 2015 S. Karger AG, Basel.

Entities:  

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Year:  2015        PMID: 26201699      PMCID: PMC4528966          DOI: 10.1159/000381805

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  68 in total

1.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Authors:  Lucia A Hindorff; Praveen Sethupathy; Heather A Junkins; Erin M Ramos; Jayashri P Mehta; Francis S Collins; Teri A Manolio
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

2.  A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Authors:  R G Knowlton; O Cohen-Haguenauer; N Van Cong; J Frézal; V A Brown; D Barker; J C Braman; J W Schumm; L C Tsui; M Buchwald
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

3.  Returning pleiotropic results from genetic testing to patients and research participants.

Authors:  Jonathan M Kocarnik; Stephanie M Fullerton
Journal:  JAMA       Date:  2014-02-26       Impact factor: 56.272

4.  Development of a data-mining algorithm to identify ages at reproductive milestones in electronic medical records.

Authors:  Jennifer Malinowski; Eric Farber-Eger; Dana C Crawford
Journal:  Pac Symp Biocomput       Date:  2014

5.  The case for a US prospective cohort study of genes and environment.

Authors:  Francis S Collins
Journal:  Nature       Date:  2004-05-27       Impact factor: 49.962

6.  Biobanks and electronic medical records: enabling cost-effective research.

Authors:  Erica Bowton; Julie R Field; Sunny Wang; Jonathan S Schildcrout; Sara L Van Driest; Jessica T Delaney; James Cowan; Peter Weeke; Jonathan D Mosley; Quinn S Wells; Jason H Karnes; Christian Shaffer; Josh F Peterson; Joshua C Denny; Dan M Roden; Jill M Pulley
Journal:  Sci Transl Med       Date:  2014-04-30       Impact factor: 17.956

7.  The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study.

Authors:  Tara C Matise; Jose Luis Ambite; Steven Buyske; Christopher S Carlson; Shelley A Cole; Dana C Crawford; Christopher A Haiman; Gerardo Heiss; Charles Kooperberg; Loic Le Marchand; Teri A Manolio; Kari E North; Ulrike Peters; Marylyn D Ritchie; Lucia A Hindorff; Jonathan L Haines
Journal:  Am J Epidemiol       Date:  2011-08-11       Impact factor: 4.897

8.  The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.

Authors:  Benjamin F Voight; Hyun Min Kang; Jun Ding; Cameron D Palmer; Carlo Sidore; Peter S Chines; Noël P Burtt; Christian Fuchsberger; Yanming Li; Jeanette Erdmann; Timothy M Frayling; Iris M Heid; Anne U Jackson; Toby Johnson; Tuomas O Kilpeläinen; Cecilia M Lindgren; Andrew P Morris; Inga Prokopenko; Joshua C Randall; Richa Saxena; Nicole Soranzo; Elizabeth K Speliotes; Tanya M Teslovich; Eleanor Wheeler; Jared Maguire; Melissa Parkin; Simon Potter; N William Rayner; Neil Robertson; Kathleen Stirrups; Wendy Winckler; Serena Sanna; Antonella Mulas; Ramaiah Nagaraja; Francesco Cucca; Inês Barroso; Panos Deloukas; Ruth J F Loos; Sekar Kathiresan; Patricia B Munroe; Christopher Newton-Cheh; Arne Pfeufer; Nilesh J Samani; Heribert Schunkert; Joel N Hirschhorn; David Altshuler; Mark I McCarthy; Gonçalo R Abecasis; Michael Boehnke
Journal:  PLoS Genet       Date:  2012-08-02       Impact factor: 5.917

9.  Pleiotropy of cancer susceptibility variants on the risk of non-Hodgkin lymphoma: the PAGE consortium.

Authors:  Unhee Lim; Jonathan M Kocarnik; William S Bush; Tara C Matise; Christian Caberto; Sungshim Lani Park; Christopher S Carlson; Ewa Deelman; David Duggan; Megan Fesinmeyer; Christopher A Haiman; Brian E Henderson; Lucia A Hindorff; Laurence N Kolonel; Ulrike Peters; Daniel O Stram; Maarit Tiirikainen; Lynne R Wilkens; Chunyuan Wu; Charles Kooperberg; Loïc Le Marchand
Journal:  PLoS One       Date:  2014-03-05       Impact factor: 3.240

10.  Discovery and refinement of loci associated with lipid levels.

Authors:  Cristen J Willer; Ellen M Schmidt; Sebanti Sengupta; Michael Boehnke; Panos Deloukas; Sekar Kathiresan; Karen L Mohlke; Erik Ingelsson; Gonçalo R Abecasis; Gina M Peloso; Stefan Gustafsson; Stavroula Kanoni; Andrea Ganna; Jin Chen; Martin L Buchkovich; Samia Mora; Jacques S Beckmann; Jennifer L Bragg-Gresham; Hsing-Yi Chang; Ayşe Demirkan; Heleen M Den Hertog; Ron Do; Louise A Donnelly; Georg B Ehret; Tõnu Esko; Mary F Feitosa; Teresa Ferreira; Krista Fischer; Pierre Fontanillas; Ross M Fraser; Daniel F Freitag; Deepti Gurdasani; Kauko Heikkilä; Elina Hyppönen; Aaron Isaacs; Anne U Jackson; Åsa Johansson; Toby Johnson; Marika Kaakinen; Johannes Kettunen; Marcus E Kleber; Xiaohui Li; Jian'an Luan; Leo-Pekka Lyytikäinen; Patrik K E Magnusson; Massimo Mangino; Evelin Mihailov; May E Montasser; Martina Müller-Nurasyid; Ilja M Nolte; Jeffrey R O'Connell; Cameron D Palmer; Markus Perola; Ann-Kristin Petersen; Serena Sanna; Richa Saxena; Susan K Service; Sonia Shah; Dmitry Shungin; Carlo Sidore; Ci Song; Rona J Strawbridge; Ida Surakka; Toshiko Tanaka; Tanya M Teslovich; Gudmar Thorleifsson; Evita G Van den Herik; Benjamin F Voight; Kelly A Volcik; Lindsay L Waite; Andrew Wong; Ying Wu; Weihua Zhang; Devin Absher; Gershim Asiki; Inês Barroso; Latonya F Been; Jennifer L Bolton; Lori L Bonnycastle; Paolo Brambilla; Mary S Burnett; Giancarlo Cesana; Maria Dimitriou; Alex S F Doney; Angela Döring; Paul Elliott; Stephen E Epstein; Gudmundur Ingi Eyjolfsson; Bruna Gigante; Mark O Goodarzi; Harald Grallert; Martha L Gravito; Christopher J Groves; Göran Hallmans; Anna-Liisa Hartikainen; Caroline Hayward; Dena Hernandez; Andrew A Hicks; Hilma Holm; Yi-Jen Hung; Thomas Illig; Michelle R Jones; Pontiano Kaleebu; John J P Kastelein; Kay-Tee Khaw; Eric Kim; Norman Klopp; Pirjo Komulainen; Meena Kumari; Claudia Langenberg; Terho Lehtimäki; Shih-Yi Lin; Jaana Lindström; Ruth J F Loos; François Mach; Wendy L McArdle; Christa Meisinger; Braxton D Mitchell; Gabrielle Müller; Ramaiah Nagaraja; Narisu Narisu; Tuomo V M Nieminen; Rebecca N Nsubuga; Isleifur Olafsson; Ken K Ong; Aarno Palotie; Theodore Papamarkou; Cristina Pomilla; Anneli Pouta; Daniel J Rader; Muredach P Reilly; Paul M Ridker; Fernando Rivadeneira; Igor Rudan; Aimo Ruokonen; Nilesh Samani; Hubert Scharnagl; Janet Seeley; Kaisa Silander; Alena Stančáková; Kathleen Stirrups; Amy J Swift; Laurence Tiret; Andre G Uitterlinden; L Joost van Pelt; Sailaja Vedantam; Nicholas Wainwright; Cisca Wijmenga; Sarah H Wild; Gonneke Willemsen; Tom Wilsgaard; James F Wilson; Elizabeth H Young; Jing Hua Zhao; Linda S Adair; Dominique Arveiler; Themistocles L Assimes; Stefania Bandinelli; Franklyn Bennett; Murielle Bochud; Bernhard O Boehm; Dorret I Boomsma; Ingrid B Borecki; Stefan R Bornstein; Pascal Bovet; Michel Burnier; Harry Campbell; Aravinda Chakravarti; John C Chambers; Yii-Der Ida Chen; Francis S Collins; Richard S Cooper; John Danesh; George Dedoussis; Ulf de Faire; Alan B Feranil; Jean Ferrières; Luigi Ferrucci; Nelson B Freimer; Christian Gieger; Leif C Groop; Vilmundur Gudnason; Ulf Gyllensten; Anders Hamsten; Tamara B Harris; Aroon Hingorani; Joel N Hirschhorn; Albert Hofman; G Kees Hovingh; Chao Agnes Hsiung; Steve E Humphries; Steven C Hunt; Kristian Hveem; Carlos Iribarren; Marjo-Riitta Järvelin; Antti Jula; Mika Kähönen; Jaakko Kaprio; Antero Kesäniemi; Mika Kivimaki; Jaspal S Kooner; Peter J Koudstaal; Ronald M Krauss; Diana Kuh; Johanna Kuusisto; Kirsten O Kyvik; Markku Laakso; Timo A Lakka; Lars Lind; Cecilia M Lindgren; Nicholas G Martin; Winfried März; Mark I McCarthy; Colin A McKenzie; Pierre Meneton; Andres Metspalu; Leena Moilanen; Andrew D Morris; Patricia B Munroe; Inger Njølstad; Nancy L Pedersen; Chris Power; Peter P Pramstaller; Jackie F Price; Bruce M Psaty; Thomas Quertermous; Rainer Rauramaa; Danish Saleheen; Veikko Salomaa; Dharambir K Sanghera; Jouko Saramies; Peter E H Schwarz; Wayne H-H Sheu; Alan R Shuldiner; Agneta Siegbahn; Tim D Spector; Kari Stefansson; David P Strachan; Bamidele O Tayo; Elena Tremoli; Jaakko Tuomilehto; Matti Uusitupa; Cornelia M van Duijn; Peter Vollenweider; Lars Wallentin; Nicholas J Wareham; John B Whitfield; Bruce H R Wolffenbuttel; Jose M Ordovas; Eric Boerwinkle; Colin N A Palmer; Unnur Thorsteinsdottir; Daniel I Chasman; Jerome I Rotter; Paul W Franks; Samuli Ripatti; L Adrienne Cupples; Manjinder S Sandhu; Stephen S Rich
Journal:  Nat Genet       Date:  2013-10-06       Impact factor: 38.330

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  22 in total

1.  Evidence for extensive pleiotropy among pharmacogenes.

Authors:  Matthew T Oetjens; William S Bush; Joshua C Denny; Kelly Birdwell; Nuri Kodaman; Anurag Verma; Holli H Dilks; Sarah A Pendergrass; Marylyn D Ritchie; Dana C Crawford
Journal:  Pharmacogenomics       Date:  2016-06-01       Impact factor: 2.533

2.  DEVELOPMENT AND PERFORMANCE OF TEXT-MINING ALGORITHMS TO EXTRACT SOCIOECONOMIC STATUS FROM DE-IDENTIFIED ELECTRONIC HEALTH RECORDS.

Authors:  Brittany M Hollister; Nicole A Restrepo; Eric Farber-Eger; Dana C Crawford; Melinda C Aldrich; Amy Non
Journal:  Pac Symp Biocomput       Date:  2017

Review 3.  Secondary Use and Analysis of Big Data Collected for Patient Care.

Authors:  F J Martin-Sanchez; V Aguiar-Pulido; G H Lopez-Campos; N Peek; L Sacchi
Journal:  Yearb Med Inform       Date:  2017-09-11

4.  Development and Evaluation of a Rules-based Algorithm for Primary Open-Angle Glaucoma in the VA Million Veteran Program.

Authors:  Cari L Nealon; Christopher W Halladay; Tyler G Kinzy; Piana Simpson; Rachael L Canania; Scott A Anthony; David P Roncone; Lea R Sawicki Rogers; Jenna N Leber; Jacquelyn M Dougherty; Jack M Sullivan; Wen-Chih Wu; Paul B Greenberg; Sudha K Iyengar; Dana C Crawford; Neal S Peachey; Jessica N Cooke Bailey
Journal:  Ophthalmic Epidemiol       Date:  2021-11-25

5.  PRECISION MEDICINE: FROM DIPLOTYPES TO DISPARITIES TOWARDS IMPROVED HEALTH AND THERAPIES.

Authors:  Dana C Crawford; Alexander A Morgan; Joshua C Denny; Bruce J Aronow; Steven E Brenner
Journal:  Pac Symp Biocomput       Date:  2018

6.  Local ancestry transitions modify snp-trait associations.

Authors:  Alexandra E Fish; Dana C Crawford; John A Capra; William S Bush
Journal:  Pac Symp Biocomput       Date:  2018

7.  THE CHALLENGES IN USING ELECTRONIC HEALTH RECORDS FOR PHARMACOGENOMICS AND PRECISION MEDICINE RESEARCH.

Authors:  Sarah M Laper; Nicole A Restrepo; Dana C Crawford
Journal:  Pac Symp Biocomput       Date:  2016

8.  Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci.

Authors:  Lindsay Fernández-Rhodes; Jian Gong; Jeffrey Haessler; Nora Franceschini; Mariaelisa Graff; Katherine K Nishimura; Yujie Wang; Heather M Highland; Sachiko Yoneyama; William S Bush; Robert Goodloe; Marylyn D Ritchie; Dana Crawford; Myron Gross; Myriam Fornage; Petra Buzkova; Ran Tao; Carmen Isasi; Larissa Avilés-Santa; Martha Daviglus; Rachel H Mackey; Denise Houston; C Charles Gu; Georg Ehret; Khanh-Dung H Nguyen; Cora E Lewis; Mark Leppert; Marguerite R Irvin; Unhee Lim; Christopher A Haiman; Loic Le Marchand; Fredrick Schumacher; Lynne Wilkens; Yingchang Lu; Erwin P Bottinger; Ruth J L Loos; Wayne H-H Sheu; Xiuqing Guo; Wen-Jane Lee; Yang Hai; Yi-Jen Hung; Devin Absher; I-Chien Wu; Kent D Taylor; I-Te Lee; Yeheng Liu; Tzung-Dau Wang; Thomas Quertermous; Jyh-Ming J Juang; Jerome I Rotter; Themistocles Assimes; Chao A Hsiung; Yii-Der Ida Chen; Ross Prentice; Lewis H Kuller; JoAnn E Manson; Charles Kooperberg; Paul Smokowski; Whitney R Robinson; Penny Gordon-Larsen; Rongling Li; Lucia Hindorff; Steven Buyske; Tara C Matise; Ulrike Peters; Kari E North
Journal:  Hum Genet       Date:  2017-04-08       Impact factor: 5.881

9.  Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.

Authors:  Nicole A Restrepo; Eric Farber-Eger; Robert Goodloe; Jonathan L Haines; Dana C Crawford
Journal:  PLoS One       Date:  2015-06-10       Impact factor: 3.240

10.  The effects of electronic medical record phenotyping details on genetic association studies: HDL-C as a case study.

Authors:  Logan Dumitrescu; Robert Goodloe; Yukiko Bradford; Eric Farber-Eger; Jonathan Boston; Dana C Crawford
Journal:  BioData Min       Date:  2015-05-06       Impact factor: 2.522

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