Publications by authors named "Marylyn Ritchie"

100Publications

Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals.

Biol Psychiatry 2020 Jul 6. Epub 2020 Jul 6.

Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.biopsych.2020.06.026DOI Listing
July 2020

COVID-19 outcomes and the human genome.

Genet Med 2020 07 12;22(7):1175-1177. Epub 2020 May 12.

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-020-0832-3DOI Listing
July 2020

Electronic health records and polygenic risk scores for predicting disease risk.

Nat Rev Genet 2020 08 31;21(8):493-502. Epub 2020 Mar 31.

Department of Biostatistics, Epidemiology & Informatics, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41576-020-0224-1DOI Listing
August 2020

CLARITE Facilitates the Quality Control and Analysis Process for EWAS of Metabolic-Related Traits.

Front Genet 2019 18;10:1240. Epub 2019 Dec 18.

Department of Veterinary and Biomedical Sciences, College of Agricultural Sciences, The Pennsylvania State University, University Park, PA, United States.

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http://dx.doi.org/10.3389/fgene.2019.01240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930237PMC
December 2019

Mitochondrial DNA Haplogroups and Frailty in Adults Living with HIV.

AIDS Res Hum Retroviruses 2020 03 14;36(3):214-219. Epub 2020 Jan 14.

Division of Infectious Diseases, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

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http://dx.doi.org/10.1089/AID.2019.0233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7133433PMC
March 2020

Translational Bioinformatics: Biobanks in the Precision Medicine Era.

Pac Symp Biocomput 2020 ;25:743-747

Department of Genetics and Institute for Biomedical Informatics, The Perelman School of Medicine, University of Pennsylvania, A301 Richards Building, 3700 Hamilton Walk, Philadelphia, PA 19104, USA,

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January 2020

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

Authors:
Amand F Schmidt Michael V Holmes David Preiss Daniel I Swerdlow Spiros Denaxas Ghazaleh Fatemifar Rupert Faraway Chris Finan Dennis Valentine Zammy Fairhurst-Hunter Fernando Pires Hartwig Bernardo Lessa Horta Elina Hypponen Christine Power Max Moldovan Erik van Iperen Kees Hovingh Ilja Demuth Kristina Norman Elisabeth Steinhagen-Thiessen Juri Demuth Lars Bertram Christina M Lill 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 A Scott Jian'an Luan Martin Bobak Sofia Malyutina Andrzej Pająk Ruzena Kubinova Abdonas Tamosiunas Hynek Pikhart Niels Grarup Oluf Pedersen Torben Hansen Allan Linneberg Tine Jess Jackie Cooper Steve E Humphries Murray Brilliant Terrie Kitchner Hakon Hakonarson David S Carrell Catherine A McCarty Kirchner H Lester Eric B Larson David R Crosslin Mariza de Andrade Dan M Roden Joshua C Denny Cara Carty Stephen Hancock John Attia Elizabeth Holliday Rodney Scott Peter Schofield 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 D 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 Tom Meade Ingrid E Christophersen 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 Ronan Roussel Amélie Bonnefond Bertrand Cariou Melissa Smart Yanchun Bao Meena Kumari Anubha Mahajan Jemma C Hopewell Sudha Seshadri Caroline Dale Rui Providencia E Costa Paul M Ridker Daniel I Chasman Alex P Reiner Marylyn D Ritchie Leslie A Lange Alex J Cornish Sara E Dobbins Kari Hemminki Ben Kinnersley Marc Sanson Karim Labreche Matthias Simon Melissa Bondy Philip Law Helen Speedy James Allan Ni Li Molly Went Niels Weinhold Gareth Morgan Pieter Sonneveld Björn Nilsson Hartmut Goldschmidt Amit Sud Andreas Engert Markus Hansson Harry Hemingway Folkert W Asselbergs Riyaz S Patel Brendan J Keating Naveed Sattar Richard Houlston Juan P Casas Aroon D Hingorani

BMC Cardiovasc Disord 2019 10 29;19(1):240. Epub 2019 Oct 29.

Institute of Cardiovascular Science, University College London, 222 Euston Road, London, NW1 2DA, UK.

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http://dx.doi.org/10.1186/s12872-019-1187-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820948PMC
October 2019

CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.

Int J Cardiol 2020 01 19;298:107-113. Epub 2019 Jul 19.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2019.07.058DOI Listing
January 2020

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

Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clin Pharmacol Ther 2020 01 17;107(1):203-210. Epub 2019 Sep 17.

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

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http://dx.doi.org/10.1002/cpt.1568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977333PMC
January 2020

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

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 2020

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

Per Med 2019 05 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545355PMC
May 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

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

Am J Hum Genet 2019 01 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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