Marylyn Ritchie

Marylyn Ritchie

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Marylyn Ritchie

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Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clin Pharmacol Ther 2019 Jul 15. Epub 2019 Jul 15.

Department of Biomedical Data Science and Biomedical Informatics Research, School of Medicine, Stanford University, Palo Alto, CA, 94305.

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http://dx.doi.org/10.1002/cpt.1568DOI Listing
July 2019

Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies.

BioData Min 2019 9;12:14. Epub 2019 Jul 9.

1Institute for Biomedical Informatics, University of Pennsylvania, Philadelphia, PA USA.

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http://dx.doi.org/10.1186/s13040-019-0201-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617598PMC
July 2019

Preparing next-generation scientists for biomedical big data: artificial intelligence approaches.

Per Med 2019 May 14;16(3):247-257. Epub 2019 Feb 14.

Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.2217/pme-2018-0145DOI Listing
May 2019

Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes.

BioData Min 2019 14;12:10. Epub 2019 May 14.

Department of Genetics, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd., Philadelphia, PA 19104 USA.

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http://dx.doi.org/10.1186/s13040-019-0197-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518798PMC
May 2019

Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity.

Pharmacogenomics J 2019 04 25;19(2):178-190. Epub 2018 May 25.

Bioinformatics and Genomics program, Pennsylvania State University, University Park, Pennsylvania, USA.

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http://dx.doi.org/10.1038/s41397-018-0024-6DOI Listing
April 2019

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.

Am J Hum Genet 2019 Jan 29;104(1):55-64. Epub 2018 Dec 29.

The Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, PA 16802, USA; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA 17821, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323551PMC
January 2019

Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico.

BMC Bioinformatics 2019 Jan 22;20(1):46. Epub 2019 Jan 22.

Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s12859-018-2591-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343276PMC
January 2019

Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies.

Pac Symp Biocomput 2019 ;24:296-307

Genomics and Computational Biology Program, University of Pennsylvania Philadelphia, PA 19104, USA,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417797PMC
January 2019

How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures?

Pac Symp Biocomput 2018 ;23:228-239

Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785784PMC
August 2018

Evaluation of PrediXcan for prioritizing GWAS associations and predicting gene expression.

Pac Symp Biocomput 2018 ;23:448-459

The Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, PA, United States.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749400PMC
August 2018

PharmCAT: A Pharmacogenomics Clinical Annotation Tool.

Clin Pharmacol Ther 2018 07 1;104(1):19-22. Epub 2017 Dec 1.

Biomedical and Translational Informatics Institute, Geisinger, Danville, Pennsylvania, USA.

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http://dx.doi.org/10.1002/cpt.928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984125PMC
July 2018

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

Nat Genet 2018 07 23;50(8):1112-1121. Epub 2018 Jul 23.

National Bureau of Economic Research, Cambridge, MA, USA.

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http://www.nature.com/articles/s41588-018-0147-3
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http://dx.doi.org/10.1038/s41588-018-0147-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393768PMC
July 2018

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

Authors:
Jessica van Setten Jennifer A Brody Yalda Jamshidi Brenton R Swenson Anne M Butler Harry Campbell Fabiola M Del Greco Daniel S Evans Quince Gibson Daniel F Gudbjartsson Kathleen F Kerr Bouwe P Krijthe Leo-Pekka Lyytikäinen Christian Müller Martina Müller-Nurasyid Ilja M Nolte Sandosh Padmanabhan Marylyn D Ritchie Antonietta Robino Albert V Smith Maristella Steri Toshiko Tanaka Alexander Teumer Stella Trompet Sheila Ulivi Niek Verweij Xiaoyan Yin David O Arnar Folkert W Asselbergs Joel S Bader John Barnard Josh Bis Stefan Blankenberg Eric Boerwinkle Yuki Bradford Brendan M Buckley Mina K Chung Dana Crawford Marcel den Hoed Josh C Denny Anna F Dominiczak Georg B Ehret Mark Eijgelsheim Patrick T Ellinor Stephan B Felix Oscar H Franco Lude Franke Tamara B Harris Hilma Holm Gandin Ilaria Annamaria Iorio Mika Kähönen Ivana Kolcic Jan A Kors Edward G Lakatta Lenore J Launer Honghuang Lin Henry J Lin Ruth J F Loos Steven A Lubitz Peter W Macfarlane Jared W Magnani Irene Mateo Leach Thomas Meitinger Braxton D Mitchell Thomas Munzel George J Papanicolaou Annette Peters Arne Pfeufer Peter P Pramstaller Olli T Raitakari Jerome I Rotter Igor Rudan Nilesh J Samani David Schlessinger Claudia T Silva Aldana Moritz F Sinner Jonathan D Smith Harold Snieder Elsayed Z Soliman Timothy D Spector David J Stott Konstantin Strauch Kirill V Tarasov Unnur Thorsteinsdottir Andre G Uitterlinden David R Van Wagoner Uwe Völker Henry Völzke Melanie Waldenberger Harm Jan Westra Philipp S Wild Tanja Zeller Alvaro Alonso Christy L Avery Stefania Bandinelli Emelia J Benjamin Francesco Cucca Marcus Dörr Luigi Ferrucci Paolo Gasparini Vilmundur Gudnason Caroline Hayward Susan R Heckbert Andrew A Hicks J Wouter Jukema Stefan Kääb Terho Lehtimäki Yongmei Liu Patricia B Munroe Afshin Parsa Ozren Polasek Bruce M Psaty Dan M Roden Renate B Schnabel Gianfranco Sinagra Kari Stefansson Bruno H Stricker Pim van der Harst Cornelia M van Duijn James F Wilson Sina A Gharib Paul I W de Bakker Aaron Isaacs Dan E Arking Nona Sotoodehnia

Nat Commun 2018 07 25;9(1):2904. Epub 2018 Jul 25.

Departments of Medicine and Epidemiology, Cardiovascular Health Research Unit, Division of Cardiology, University of Washington, Seattle, 98101, WA, USA.

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http://dx.doi.org/10.1038/s41467-018-04766-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060178PMC
July 2018

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Nat Commun 2018 06 13;9(1):2252. Epub 2018 Jun 13.

Regeneron Pharmaceuticals, Tarrytown, 10591, NY, USA.

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http://dx.doi.org/10.1038/s41467-018-04611-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997992PMC
June 2018

First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring.

J Pediatr 2018 04 15;195:275-278. Epub 2017 Dec 15.

Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.10.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869072PMC
April 2018

A simulation study investigating power estimates in phenome-wide association studies.

BMC Bioinformatics 2018 04 4;19(1):120. Epub 2018 Apr 4.

Department of Genetics and Institute for Biomedical Informatics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s12859-018-2135-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885318PMC
April 2018

Collective feature selection to identify crucial epistatic variants.

BioData Min 2018 19;11. Epub 2018 Apr 19.

1Biomedical and Translational Bioinformatics Institute, Geisinger Health System, 100 N Academy Avenue, Danville, PA 17822 USA.

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http://dx.doi.org/10.1186/s13040-018-0168-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907720PMC
April 2018

Informatics and machine learning to define the phenotype.

Expert Rev Mol Diagn 2018 03 16;18(3):219-226. Epub 2018 Feb 16.

a Department of Biochemistry and Molecular Biology , The Pennsylvania State University , State College , PA , USA.

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http://dx.doi.org/10.1080/14737159.2018.1439380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080627PMC
March 2018

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

Am J Hum Genet 2018 01 28;102(1):103-115. Epub 2017 Dec 28.

Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health, Norwegian University of Science and Technology, Trondheim 7491, Norway; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777936PMC
January 2018

Another Round of "Clue" to Uncover the Mystery of Complex Traits.

Genes (Basel) 2018 Jan 25;9(2). Epub 2018 Jan 25.

The Huck Institute of Life Sciences, The Pennsylvania State University, University Park, PA 16802, USA.

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http://dx.doi.org/10.3390/genes9020061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852557PMC
January 2018

Current Scope and Challenges in Phenome-Wide Association Studies.

Curr Epidemiol Rep 2017 Dec 2;4(4):321-329. Epub 2017 Nov 2.

Biomedical and Translational Informatics Institute, Geisinger Health System, Danville, PA.

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http://dx.doi.org/10.1007/s40471-017-0127-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846687PMC
December 2017

Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology.

PLoS Genet 2017 09 28;13(9):e1006945. Epub 2017 Sep 28.

Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619686PMC
September 2017

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.

N Engl J Med 2017 07 24;377(3):211-221. Epub 2017 May 24.

From Regeneron Genetics Center (F.E.D., C.O., C.S., O.G., S.M., C.V.V.H., S.B., L.H., A.L., J.P., N.S., A.J.M., J.D.O., J.G.R., A.R.S., I.B.B., T.M.T., G.D.Y., S.J.M., A. Baras) and Regeneron Pharmaceuticals (V.G., H.M.D., A.Z., W.S., N.S., A.J.M., S.H., A. Bouzelmat, R.Z., B.S., R.P., D.G., G.A.H., W.J.S., P.B., G.D.Y., S.J.M., J.G.) Tarrytown, NY; the Department of Medicine, Division of Translational Medicine and Human Genetics (R.L.D.), and Departments of Surgery (S.D.) and Genetics and Medicine (A.S., D.J.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, and Geisinger Health System, Danville (J.B.L., M.F.M., M.D.R., H.L.K., D.H.L., D.J.C.) - both in Pennsylvania; the Division of Endocrinology and Metabolism, Department of Internal Medicine (W.H.H.S., I.-T.L.) and Cardiovascular Center (K.-W.L.), Taichung Veterans General Hospital, Institute of Medical Technology, National Chung-Hsing University (W.H.H.S.), School of Medicine, Chung Shan Medical University (I.-T.L.), and the Department of Medicine, China Medical University (K.-W.L.), Taichung, and School of Medicine, National Yang-Ming University (W.H.H.S., I.-T.L., K.-W.L.), and School of Medicine, National Defense Medical Center (W.H.H.S.), Taipei - all in Taiwan; Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA (X.G., J.I.R., Y.-D.I.C.); the Division of Cardiology, Department of Medicine, Molecular Physiology Institute, School of Medicine, Duke University, Durham, NC (W.E.K., S.H.S.); the Department of Clinical Biochemistry, Rigshospitalet (A.B.W., B.G.N., A.T.-H.), the Copenhagen General Population Study (B.G.N., A.T.-H.) and Department of Clinical Biochemistry (B.G.N.), Herlev and Gentofte Hospital, and the Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen University Hospital, and Faculty of Health and Medical Sciences, University of Copenhagen (B.G.N., A.T.-H.) - all in Copenhagen; and TNO Metabolic Health Research, Gaubius Laboratory, Leiden, the Netherlands (A.M.H., H.M.G.P.).

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http://dx.doi.org/10.1056/NEJMoa1612790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800308PMC
July 2017

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.

Hum Genet 2017 06 8;136(6):771-800. Epub 2017 Apr 8.

Department of Epidemiology, UNC Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1007/s00439-017-1787-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485655PMC
June 2017

Methods to analyze big data in pharmacogenomics research.

Pharmacogenomics 2017 Jun 14;18(8):807-820. Epub 2017 Jun 14.

Bioinformatics & Genomics Graduate Program, The Pennsylvania State University, University Park, PA 16802, USA.

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http://dx.doi.org/10.2217/pgs-2016-0152DOI Listing
June 2017

Genetic risk models: Influence of model size on risk estimates and precision.

Genet Epidemiol 2017 05 15;41(4):282-296. Epub 2017 Feb 15.

Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://dx.doi.org/10.1002/gepi.22035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628612PMC
May 2017

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease.

BMC Med Inform Decis Mak 2017 May 18;17(Suppl 1):61. Epub 2017 May 18.

Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1186/s12911-017-0454-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444041PMC
May 2017

Identification of unique venous thromboembolism-susceptibility variants in African-Americans.

Thromb Haemost 2017 04 16;117(4):758-768. Epub 2017 Feb 16.

John A. Heit, MD, Stabile 6-Hematology Research, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905, USA, Tel.: +1 507 284 4634, Fax: +1 507 266 9302, E-mail:

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http://dx.doi.org/10.1160/TH16-08-0652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831339PMC
April 2017

Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202.

Pharmacogenet Genomics 2017 03;27(3):101-111

aThe Center for Systems Genomics, The Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park bBiomedical and Translational Informatics, Geisinger Health System, Danville, Pennsylvania cLos Angeles Biomedical Research Institute at Harbor, UCLA Medical Center, Torrance, California dUniversity of Rochester Medical Center, Rochester eDepartment of Pharmacy Practice, Center for Integrated Global Biomedical Sciences, University at Buffalo, SUNY, Buffalo, New York fVanderbilt University School of Medicine gMeharry Medical College, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1097/FPC.0000000000000263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5285297PMC
March 2017

Celebrating parasites.

Nat Genet 2017 03;49(4):483-484

Department of Pharmacology, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1038/ng.3830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710834PMC
March 2017

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

Authors:
Amand F Schmidt Daniel I Swerdlow Michael V Holmes Riyaz S Patel Zammy Fairhurst-Hunter Donald M Lyall Fernando Pires Hartwig Bernardo Lessa Horta Elina Hyppönen Christine Power Max Moldovan Erik van Iperen G Kees Hovingh Ilja Demuth Kristina Norman Elisabeth Steinhagen-Thiessen Juri Demuth Lars Bertram Tian Liu Stefan Coassin Johann Willeit Stefan Kiechl Karin Willeit Dan Mason John Wright Richard Morris Goya Wanamethee Peter Whincup Yoav Ben-Shlomo Stela McLachlan Jackie F Price Mika Kivimaki Catherine Welch Adelaida Sanchez-Galvez Pedro Marques-Vidal Andrew Nicolaides Andrie G Panayiotou N Charlotte Onland-Moret Yvonne T van der Schouw Giuseppe Matullo Giovanni Fiorito Simonetta Guarrera Carlotta Sacerdote Nicholas J Wareham Claudia Langenberg Robert Scott Jian'an Luan Martin Bobak Sofia Malyutina Andrzej Pająk Ruzena Kubinova Abdonas Tamosiunas Hynek Pikhart Lise Lotte Nystrup Husemoen Niels Grarup Oluf Pedersen Torben Hansen Allan Linneberg Kenneth Starup Simonsen Jackie Cooper Steve E Humphries Murray Brilliant Terrie Kitchner Hakon Hakonarson David S Carrell Catherine A McCarty H Lester Kirchner Eric B Larson David R Crosslin Mariza de Andrade Dan M Roden Joshua C Denny Cara Carty Stephen Hancock John Attia Elizabeth Holliday Martin O'Donnell Salim Yusuf Michael Chong Guillaume Pare Pim van der Harst M Abdullah Said Ruben N Eppinga Niek Verweij Harold Snieder Tim Christen Dennis O Mook-Kanamori Stefan Gustafsson Lars Lind Erik Ingelsson Raha Pazoki Oscar Franco Albert Hofman Andre Uitterlinden Abbas Dehghan Alexander Teumer Sebastian Baumeister Marcus Dörr Markus M Lerch Uwe Völker Henry Völzke Joey Ward Jill P Pell Daniel J Smith Tom Meade Anke H Maitland-van der Zee Ekaterina V Baranova Robin Young Ian Ford Archie Campbell Sandosh Padmanabhan Michiel L Bots Diederick E Grobbee Philippe Froguel Dorothée Thuillier Beverley Balkau Amélie Bonnefond Bertrand Cariou Melissa Smart Yanchun Bao Meena Kumari Anubha Mahajan Paul M Ridker Daniel I Chasman Alex P Reiner Leslie A Lange Marylyn D Ritchie Folkert W Asselbergs Juan-Pablo Casas Brendan J Keating David Preiss Aroon D Hingorani Naveed Sattar

Lancet Diabetes Endocrinol 2017 02 29;5(2):97-105. Epub 2016 Nov 29.

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(16)30396-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266795PMC
February 2017

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

Authors:
Gregory T Jones Gerard Tromp Helena Kuivaniemi Solveig Gretarsdottir Annette F Baas Betti Giusti Ewa Strauss Femke N G Van't Hof Thomas R Webb Robert Erdman Marylyn D Ritchie James R Elmore Anurag Verma Sarah Pendergrass Iftikhar J Kullo Zi Ye Peggy L Peissig Omri Gottesman Shefali S Verma Jennifer Malinowski Laura J Rasmussen-Torvik Kenneth M Borthwick Diane T Smelser David R Crosslin Mariza de Andrade Evan J Ryer Catherine A McCarty Erwin P Böttinger Jennifer A Pacheco Dana C Crawford David S Carrell Glenn S Gerhard David P Franklin David J Carey Victoria L Phillips Michael J A Williams Wenhua Wei Ross Blair Andrew A Hill Thodor M Vasudevan David R Lewis Ian A Thomson Jo Krysa Geraldine B Hill Justin Roake Tony R Merriman Grzegorz Oszkinis Silvia Galora Claudia Saracini Rosanna Abbate Raffaele Pulli Carlo Pratesi Athanasios Saratzis Ana R Verissimo Suzannah Bumpstead Stephen A Badger Rachel E Clough Gillian Cockerill Hany Hafez D Julian A Scott T Simon Futers Simon P R Romaine Katherine Bridge Kathryn J Griffin Marc A Bailey Alberto Smith Matthew M Thompson Frank M van Bockxmeer Stefan E Matthiasson Gudmar Thorleifsson Unnur Thorsteinsdottir Jan D Blankensteijn Joep A W Teijink Cisca Wijmenga Jacqueline de Graaf Lambertus A Kiemeney Jes S Lindholt Anne Hughes Declan T Bradley Kathleen Stirrups Jonathan Golledge Paul E Norman Janet T Powell Steve E Humphries Stephen E Hamby Alison H Goodall Christopher P Nelson Natzi Sakalihasan Audrey Courtois Robert E Ferrell Per Eriksson Lasse Folkersen Anders Franco-Cereceda John D Eicher Andrew D Johnson Christer Betsholtz Arno Ruusalepp Oscar Franzén Eric E Schadt Johan L M Björkegren Leonard Lipovich Anne M Drolet Eric L Verhoeven Clark J Zeebregts Robert H Geelkerken Marc R van Sambeek Steven M van Sterkenburg Jean-Paul de Vries Kari Stefansson John R Thompson Paul I W de Bakker Panos Deloukas Robert D Sayers Seamus C Harrison Andre M van Rij Nilesh J Samani Matthew J Bown

Circ Res 2017 Jan 29;120(2):341-353. Epub 2016 Nov 29.

For the author affiliations, please see the Appendix.

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http://dx.doi.org/10.1161/CIRCRESAHA.116.308765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253231PMC
January 2017

PHENOME-WIDE INTERACTION STUDY (PheWIS) IN AIDS CLINICAL TRIALS GROUP DATA (ACTG).

Pac Symp Biocomput 2016 ;21:57-68

Center for System Genomics, The Pennsylvania State University, University Park, PA 16802, USA;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722952PMC
October 2016

INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pac Symp Biocomput 2016 ;21:168-79

Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA3Center for Systems Genomics, The Pennsylvania State University, University Park, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718547PMC
October 2016

KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN.

Pac Symp Biocomput 2016 ;21:249-60

Department of Biochemistry, Microbiology and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824557PMC
October 2016

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.

Pac Symp Biocomput 2016 ;21:357-68

Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722964PMC
October 2016

A biologically informed method for detecting rare variant associations.

BioData Min 2016 30;9(1):27. Epub 2016 Aug 30.

Department of Biochemistry and Molecular Biology, Center for Systems Genomics, The Pennsylvania State University, University Park, PA 16802 USA.

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http://dx.doi.org/10.1186/s13040-016-0107-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006419PMC
September 2016

Pathway analysis by randomization incorporating structure-PARIS: an update.

Bioinformatics 2016 08 7;32(15):2361-3. Epub 2016 Mar 7.

Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.

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http://dx.doi.org/10.1093/bioinformatics/btw130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965631PMC
August 2016

Embracing Complex Associations in Common Traits: Critical Considerations for Precision Medicine.

Trends Genet 2016 08;32(8):470-484

Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA; Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Eberly College of Science, The Pennsylvania State University, University Park, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2016.06.001DOI Listing
August 2016

eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.

BMC Med Genomics 2016 08 12;9 Suppl 1:32. Epub 2016 Aug 12.

Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, 7505, South Africa.

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http://dx.doi.org/10.1186/s12920-016-0191-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989894PMC
August 2016

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

J Am Heart Assoc 2016 07 14;5(7). Epub 2016 Jul 14.

Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands

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http://dx.doi.org/10.1161/JAHA.115.002603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015357PMC
July 2016

A GWAS Study on Liver Function Test Using eMERGE Network Participants.

PLoS One 2015 28;10(9):e0138677. Epub 2015 Sep 28.

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, United States of America; University of Cincinnati, College of Medicine, Cincinnati, OH, United States of America; U.S. Department of Veterans Affairs Medical Center, Cincinnati, OH, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138677PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586138PMC
June 2016

Evidence for extensive pleiotropy among pharmacogenes.

Pharmacogenomics 2016 06 1;17(8):853-66. Epub 2016 Jun 1.

Department of Epidemiology & Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.2217/pgs-2015-0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352965PMC
June 2016

Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network.

BioData Min 2016 10;9:18. Epub 2016 May 10.

Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA ; Biomedical & Translational Informatics, Geisinger Health System, Danville, Pennsylvania USA.

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http://dx.doi.org/10.1186/s13040-016-0094-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862166PMC
May 2016

Phenome-Wide Association Studies: Embracing Complexity for Discovery.

Hum Hered 2015 28;79(3-4):111-23. Epub 2015 Jul 28.

Biomedical and Translational Informatics Program, Geisinger Health System, Danville, Pa., USA.

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http://dx.doi.org/10.1159/000381851DOI Listing
April 2016

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

Hum Hered 2015 28;79(3-4):137-46. Epub 2015 Jul 28.

Department of Epidemiology and Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1159/000381805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528966PMC
April 2016

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.

N Engl J Med 2016 Mar 2;374(12):1123-33. Epub 2016 Mar 2.

From the Regeneron Genetics Center (F.E.D., C.O., O.G., C.V.V.H., L.H., J.P., A.L., I.B.B., J.D.O., J.G.R., A.J.M., G.D.Y., A.B., J.G., A.R.S.) and Regeneron Pharmaceuticals (V.G., J.T., C.H., D.B., K.-M.V.L., A.J.M., G.D.Y.) - both in Tarrytown, NY; and Geisinger Health System, Danville, PA (J.B.L., M.F.M., M.D.R., H.L.K., D.H.L., D.J.C.).

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http://dx.doi.org/10.1056/NEJMoa1510926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900689PMC
March 2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731307PMC
February 2016

The phenotypic legacy of admixture between modern humans and Neandertals.

Science 2016 Feb;351(6274):737-41

Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA. Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA. Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA. Center for Quantitative Sciences, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.1126/science.aad2149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849557PMC
February 2016

Interdisciplinary training to build an informatics workforce for precision medicine.

Appl Transl Genom 2015 Sep 4;6:28-30. Epub 2015 Aug 4.

Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.atg.2015.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803783PMC
September 2015

Predicting censored survival data based on the interactions between meta-dimensional omics data in breast cancer.

J Biomed Inform 2015 Aug 3;56:220-8. Epub 2015 Jun 3.

Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA; Geisinger Health System, Danville, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2015.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550096PMC
August 2015

The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research.

Front Genet 2015 17;6:104. Epub 2015 Mar 17.

The Sigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA ; Department of Surgery, Temple University School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fgene.2015.00104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362332PMC
April 2015

Genetic studies of body mass index yield new insights for obesity biology.

Authors:
Adam E Locke Bratati Kahali Sonja I Berndt Anne E Justice Tune H Pers Felix R Day Corey Powell Sailaja Vedantam Martin L Buchkovich Jian Yang Damien C Croteau-Chonka Tonu Esko Tove Fall Teresa Ferreira Stefan Gustafsson Zoltán Kutalik Jian'an Luan Reedik Mägi Joshua C Randall Thomas W Winkler Andrew R Wood Tsegaselassie Workalemahu Jessica D Faul Jennifer A Smith Jing Hua Zhao Wei Zhao Jin Chen Rudolf Fehrmann Åsa K Hedman Juha Karjalainen Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bolton Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Guohong Deng Georg B Ehret Bjarke Feenstra Mary F Feitosa Krista Fischer Anuj Goel Jian Gong Anne U Jackson Stavroula Kanoni Marcus E Kleber Kati Kristiansson Unhee Lim Vaneet Lotay Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Sarah E Medland Michael A Nalls Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Dmitry Shungin Alena Stančáková Rona J Strawbridge Yun Ju Sung Toshiko Tanaka Alexander Teumer Stella Trompet Sander W van der Laan Jessica van Setten Jana V Van Vliet-Ostaptchouk Zhaoming Wang Loïc Yengo Weihua Zhang Aaron Isaacs Eva Albrecht Johan Ärnlöv Gillian M Arscott Antony P Attwood Stefania Bandinelli Amy Barrett Isabelita N Bas Claire Bellis Amanda J Bennett Christian Berne Roza Blagieva Matthias Blüher Stefan Böhringer Lori L Bonnycastle Yvonne Böttcher Heather A Boyd Marcel Bruinenberg Ida H Caspersen Yii-Der Ida Chen Robert Clarke E Warwick Daw Anton J M de Craen Graciela Delgado Maria Dimitriou Alex S F Doney Niina Eklund Karol Estrada Elodie Eury Lasse Folkersen Ross M Fraser Melissa E Garcia Frank Geller Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Alison H Goodall Scott D Gordon Mathias Gorski Hans-Jörgen Grabe Harald Grallert Tanja B Grammer Jürgen Gräßler Henrik Grönberg Christopher J Groves Gaëlle Gusto Jeffrey Haessler Per Hall Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward Nancy L Heard-Costa Quinta Helmer Christian Hengstenberg Oddgeir Holmen Jouke-Jan Hottenga Alan L James Janina M Jeff Åsa Johansson Jennifer Jolley Thorhildur Juliusdottir Leena Kinnunen Wolfgang Koenig Markku Koskenvuo Wolfgang Kratzer Jaana Laitinen Claudia Lamina Karin Leander Nanette R Lee Peter Lichtner Lars Lind Jaana Lindström Ken Sin Lo Stéphane Lobbens Roberto Lorbeer Yingchang Lu François Mach Patrik K E Magnusson Anubha Mahajan Wendy L McArdle Stela McLachlan Cristina Menni Sigrun Merger Evelin Mihailov Lili Milani Alireza Moayyeri Keri L Monda Mario A Morken Antonella Mulas Gabriele Müller Martina Müller-Nurasyid Arthur W Musk Ramaiah Nagaraja Markus M Nöthen Ilja M Nolte Stefan Pilz Nigel W Rayner Frida Renstrom Rainer Rettig Janina S Ried Stephan Ripke Neil R Robertson Lynda M Rose Serena Sanna Hubert Scharnagl Salome Scholtens Fredrick R Schumacher William R Scott Thomas Seufferlein Jianxin Shi Albert Vernon Smith Joanna Smolonska Alice V Stanton Valgerdur Steinthorsdottir Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Sian-Tsung Tan Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Jonathan P Tyrer Hae-Won Uh Liesbeth Vandenput Frank C Verhulst Sita H Vermeulen Niek Verweij Judith M Vonk Lindsay L Waite Helen R Warren Dawn Waterworth Michael N Weedon Lynne R Wilkens Christina Willenborg Tom Wilsgaard Mary K Wojczynski Andrew Wong Alan F Wright Qunyuan Zhang Eoin P Brennan Murim Choi Zari Dastani Alexander W Drong Per Eriksson Anders Franco-Cereceda Jesper R Gådin Ali G Gharavi Michael E Goddard Robert E Handsaker Jinyan Huang Fredrik Karpe Sekar Kathiresan Sarah Keildson Krzysztof Kiryluk Michiaki Kubo Jong-Young Lee Liming Liang Richard P Lifton Baoshan Ma Steven A McCarroll Amy J McKnight Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Yukinori Okada John R B Perry Rajkumar Dorajoo Eva Reinmaa Rany M Salem Niina Sandholm Robert A Scott Lisette Stolk Atsushi Takahashi Toshihiro Tanaka Ferdinand M van 't Hooft Anna A E Vinkhuyzen Harm-Jan Westra Wei Zheng Krina T Zondervan Andrew C Heath Dominique Arveiler Stephan J L Bakker John Beilby Richard N Bergman John Blangero Pascal Bovet Harry Campbell Mark J Caulfield Giancarlo Cesana Aravinda Chakravarti Daniel I Chasman Peter S Chines Francis S Collins Dana C Crawford L Adrienne Cupples Daniele Cusi John Danesh Ulf de Faire Hester M den Ruijter Anna F Dominiczak Raimund Erbel Jeanette Erdmann Johan G Eriksson Martin Farrall Stephan B Felix Ele Ferrannini Jean Ferrières Ian Ford Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Pablo V Gejman Christian Gieger Omri Gottesman Vilmundur Gudnason Ulf Gyllensten Alistair S Hall Tamara B Harris Andrew T Hattersley Andrew A Hicks Lucia A Hindorff Aroon D Hingorani Albert Hofman Georg Homuth G Kees Hovingh Steve E Humphries Steven C Hunt Elina Hyppönen Thomas Illig Kevin B Jacobs Marjo-Riitta Jarvelin Karl-Heinz Jöckel Berit Johansen Pekka Jousilahti J Wouter Jukema Antti M Jula Jaakko Kaprio John J P Kastelein Sirkka M Keinanen-Kiukaanniemi Lambertus A Kiemeney Paul Knekt Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Frans L Moll Andrew D Morris Andrew P Morris Jeffrey C Murray Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Pamela A F Madden Gerard Pasterkamp John F Peden Annette Peters Dirkje S Postma Peter P Pramstaller Jackie F Price Lu Qi Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker John D Rioux Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Heribert Schunkert Peter E H Schwarz Peter Sever Alan R Shuldiner Juha Sinisalo Ronald P Stolk Konstantin Strauch Anke Tönjes David-Alexandre Trégouët Angelo Tremblay Elena Tremoli Jarmo Virtamo Marie-Claude Vohl Uwe Völker Gérard Waeber Gonneke Willemsen Jacqueline C Witteman M Carola Zillikens Linda S Adair Philippe Amouyel Folkert W Asselbergs Themistocles L Assimes Murielle Bochud Bernhard O Boehm Eric Boerwinkle Stefan R Bornstein Erwin P Bottinger Claude Bouchard Stéphane Cauchi John C Chambers Stephen J Chanock Richard S Cooper Paul I W de Bakker George Dedoussis Luigi Ferrucci Paul W Franks Philippe Froguel Leif C Groop Christopher A Haiman Anders Hamsten Jennie Hui David J Hunter Kristian Hveem Robert C Kaplan Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Nicholas G Martin Winfried März Mads Melbye Andres Metspalu Susanne Moebus Patricia B Munroe Inger Njølstad Ben A Oostra Colin N A Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Naveed Sattar Eric E Schadt David Schlessinger P Eline Slagboom Harold Snieder Tim D Spector Unnur Thorsteinsdottir Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Mark Walker Henri Wallaschofski Nicholas J Wareham Hugh Watkins David R Weir H-Erich Wichmann James F Wilson Pieter Zanen Ingrid B Borecki Panos Deloukas Caroline S Fox Iris M Heid Jeffrey R O'Connell David P Strachan Kari Stefansson Cornelia M van Duijn Gonçalo R Abecasis Lude Franke Timothy M Frayling Mark I McCarthy Peter M Visscher André Scherag Cristen J Willer Michael Boehnke Karen L Mohlke Cecilia M Lindgren Jacques S Beckmann Inês Barroso Kari E North Erik Ingelsson Joel N Hirschhorn Ruth J F Loos Elizabeth K Speliotes

Nature 2015 Feb;518(7538):197-206

Department of Internal Medicine, Division of Gastroenterology, and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1038/nature14177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382211PMC
February 2015