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HuGENet
HuGENet Publications

HuGENet™ publications are articles related to the HuGENet™ movement written by our HuGENet™ collaborators.

If you would like to submit or recommend a publication, please contact us at huge@cdc.gov.


Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology pdf (479KB)
Paul R Burton, et al.
International Journal of Epidemiology 2008; August



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HuGENet™ Publications

A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions
Janssens AC, et al.
Am J Hum Genet 2008 Mar;82(3):593-9

Required sample size and nonreplicability thresholds for heterogeneous genetic associations
Moonesinghe R, et al.
Proc Natl Acad Sci U S A. 2008; Jan 3

The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? pdf (148KB)
Muin J. Khoury, et al.
Genetics in Medicine. 2007; October

Assessment of cumulative evidence on genetic associations: interim guidelines
John PA Ioannidis, et al.
International Journal of Epidemiology 2007; September

Reporting of systematic reviews: the challenge of genetic association studies
Muin J. Khoury, Julian Little, Julian Higgins, John P. A. Ioannidis, Marta Gwinn
PLoS Medicine 2007; 4(6):e211

Turning the Pump Handle: Evolving Methods for Integrating the Evidence on Gene-Disease Association
Julian P. T. Higgins, et al.
American Journal of Epidemiology 2007; 166(8): 863-866

Commentary: Rare alleles, modest genetic effects and the need for collaboration
H Campbell, T Manolio
International Journal of Epidemiology 2007; 36(2):445-8

Genetic and molecular epidemiology
John P.A. Ioannidis
Journal of Epidemiology and Community Health 2007;61:757-758

Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and social issues you will need a free Acrobat reader to view this file (327KB)
A. Cecile J.W. Janssens, Muin J. Khoury
Italian Journal of Public Health 2007; 4(3):35-41

The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases 
Cecile J. W. Janssens, PhD, et al.
Genetics In Medicine 2007; 9(8):528-35

Claims of Sex Differences: An Empirical Assessment in Genetic Associations
Nikolaos A. Patsopoulos, MD, et al.
JAMA 2007; 298(8):880-93

Online genetic databases informing human genome epidemiology
Angela J Frodsham, Julian PT Higgins
BMC Medical Research Methodology 2007 7:31

Tools for assessing quality and susceptibility to bias in observational studies in epidemiology: a systematic review and annotated bibliography
Simon Sanderson, et al.
International Journal of Epidemiology (April 2007)

The appropriateness of asymmetry tests for publication bias in meta-analyses: a large survey
John P.A. Ioannidis and Thomas A. Trikalinos
Canadian Medical Association Journal, April 2007

Genetic Association Studies of Cancer: Where Do We Go from Here?
Timothy R. Rebbeck, Muin J. Khoury, John D. Potter
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):864-5

The ESCI Award 2007: Molecular evidence-based medicine
J.P.A. Ioannidis
European Journal of Clinical Investigation (2007) 37:340-349

Meta-Analysis in Genome-Wide Association Datasets: Strategies and Application in Parkinson Disease
Evangelos Evangelou, et al
PLoS Medicine (April 2007)

HuGE Reviews and Meta-analysis of Gene Association Studies
Hashem El–Serag, Associate Editor, Muin J. Khoury, Centers for Disease Control and Prevention and James D. Lewis, Associate Editor
Gastroenterology 2007; 132(3):839-840

Most published research findings are false--but a little replication goes a long way This reference links to a non-governmental website (last accessed 2/2008)
Ramal Moonesinghe, Muin J. Khoury, A. Cecile J. W. Janssens
PLoS Medicine (February 2007)

Genomics and public health
Marta Gwinn, Scott Bowen, Muin J. Khoury and the Centers for Disease Control and Prevention.
MMWR Morb Mortal Wkly Rep. 2006 Dec 22;55 Suppl 2:20-1

The Emergence of Networks in Human Genome Epidemiology: Challenges and Opportunities
Daniela Seminara, et al
Epidemiology 2007; 18(1):1-8

On the synthesis and interpretation of consistent but weak gene–disease associations in the era of genome-wide association studies
Muin J. Khoury, Julian Little, Marta Gwinn and John PA Ioannidis
International Journal Epidemiology 2006 (December)

The integration of genomics into obstetrics and gynecology: A HuGE challenge
Muin J. Khoury and Roberto Romero
American Journal of Obstetrics and Gynecology 2006; 195:1503-5

Concordance of functional in vitro data and epidemiological associations in complex disease genetics
Ioannidis JP, Kavvoura FK.
Genetics in Medicine 2006; 8(9):583-593

What role for public health in genetics and vice versa?  you will need a free Acrobat reader to view this file (60KB)
Khoury MJ, Gwinn M.
Community Genetics 2006; 9(4):282

Bayesian synthesis of epidemiological evidence with different combinations of exposure groups: application to a gene-gene-environment interaction you will need a free Acrobat reader to view this file (157KB)
Salanti G, Higgins JP, White IR.
Statistics in Medicine 2006; 25(24): 4147-4163

Genomics, Epidemiology and common complex diseases: let's not throw out the baby with the bathwater!
Muin J. Khoury and Marta Gwinn
International Journal of Epidemiology 2006; 35(5):1363-1364

Genes, environment and the value of prospective cohort studies
Teri A. Manolio, et al.
Nature 2006; 7:812-820

Genomics and Proteomics in Epidemiology: Treasure Trove or "High-Tech Stamp Collecting"?
David J. Hunter
Epidemiology 2006 Sep;17(5):487-489

Getting ready for the future: integration of genomics into public health research, policy and practice in Europe and globally
Angela Brand et al.
Community Genetics 2006; 9(1):67-71

Family-Based versus Unrelated Case-Control Designs for Genetic Associations
Evangelou E, Trikalinos TA, Salanti G, Ioannidis JP
PLoS Genetics 2006; 2(8):e123

Implications of Small Effect Sizes of Individual Genetic Variants on the Design and Interpretation of Genetic Association Studies of Complex Diseases
John P. A. Ioannidis, Thomas A. Trikalinos and Muin J. Khoury
American Journal of Epidemiology 2006; 164(7):609-614

Causal models in epidemiology: Past inheritance and genetic future
Vineis P, Kriebel D.
Environmental Health 2006; 5(1):21

Predictive testing for complex diseases using multiple genes: Fact or fiction?
A. Cecile J. W. Janssens, et al.
Genetics in Medicine 2006; 8(7):395-400

What is the clinical utility of genetic testing?
Scott D. Grosse, Muin J. Khoury, et al.
Genetics in Medicine 2006; 8(7):448-50

The path from genome-based research to population health: Development of an international public health genomics network
Wylie Burke, Muin J. Khoury et al.
Genetics in Medicine 2006; 8(7):451-58

Genetic epidemiological studies of preterm birth: Guidelines for research
Pennell C, et al.
American Journal of Obstetrics and Gynecology 2006 (June)

Bayesian meta-analysis and meta-regression for gene-disease associations and deviations from Hardy-Weinberg equilibrium
Salanti G, et al.
Statistics in Med
icine 2007; 26(3): 553-567

Tracking the Epidemiology of Human Genes in the Literature: The HuGE Published Literature Database
Bruce K. Lin, et al.
American Journal of Epidemiology 2006; 164(1):1-4

Commentary: Grading the credibility of molecular evidence for complex diseases
John P A Ioannidis
International Journal of Epidemiology 2006; 35(3):572-578

Make it HuGE: human genome epidemiology reviews, population health, and the IJE
Smith GD et al.
International Journal of Epidemiology 2006; 35(3):507-510

Genomics and public health in the United States: signposts on the translation highway
Gwinn M, Khoury MJ
Community Genetics 2006; 9(1):21-6

Quantifying the health benefits of genetic tests: the importance of a population perspective
Khoury MJ, Jones K, Grosse SD
Genetics in Medicine 2006; 8(3):191-5

A road map for efficient and reliable human genome epidemiology This reference links to a non-governmental website
John P A Ioannidis, Marta Gwinn, Julian Little, et al.
Nature Genetics 38, 305 (2006)

Expanded publishing model for genetic association studies
Gwinn M, Khoury MJ.
Cancer Epidemiology Biomarkers & Prevention 2006;15(1):185

Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations
Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP.
American Journal of Epidemiology 2006;163(4):300-9.

Journals should publish all "null" results and should sparingly publish "positive" results This reference links to a non-governmental website
Ioannidis JP.
Cancer Epidemiology Biomarkers & Prevention
2006;15(1):186

Do We Need Genomic Research for the Prevention of Common Diseases with Environmental Causes?
Muin J. Khoury, Robert Davis, Marta Gwinn, Mary Lou Lindegren and Paula Yoon
American Journal of Epidemiology 2006; 161(9):799-805

A Network of Investigator Networks in Human Genome Epidemiology
John P. A. Ioannidis et al.
American Journal of Epidemiology
2005; 162(4):302-304

The epidemiologic approach to pharmacogenomics you will need a free Acrobat reader to view this file (335KB)
Little J, et al.,
American Journal of Pharmacogenomics 2005; 5(1):1-20

Genomic Epidemiology of Complex Disease: The Need for an Electronic Evidence-based Approach to Research Synthesis
HuGE commentary by M. Bracken
American Journal of Epidemiology
2005; 162(4):297-301

Obstacles and opportunities in meta-analysis of genetic association studies
G. Salanti et al.
Genetics in Medicine 2005; 7(1):13-20

The Case for a Global Human Genome Epidemiology Initiative
Article by Muin J. Khoury, Sep (2004)
Nature Genetics 2004;36(10):1027-8

The Emergence of Epidemiology in the Genomics Age
Muin J Khoury, Robert Millikan, Julian Littleand Marta Gwinn
International Journal of Epidemiology 2004; 33(5):936-944

Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease
Book edited by Muin J. Khoury, Julian Little, and Wylie Burke (2004)

Improving the Prediction of Complex Diseases by Testing for Multiple Disease‐Susceptibility Genes
American Journal Human Genetics 2003 Mar;72(3):636-49

Mendelian Randomisation: A New Spin or Real Progress?
A commentary by Julian Little and Muin J. Khoury
Lancet 2003;362(9388):930-1

The Human Genome Project Is Now Complete. How Do We Develop a Handle for the Pump?
Article by Julian Little et al.
American Journal of Epidemiology 2003; 157:667-673

Commentary: Epidemiology and the Continuum from Genetic Research to Genetic Testing
Article by Muin J. Khoury
American Journal of Epidemiology 2002; 156:297-299.

Reporting, Appraising, and Integrating Data On Genotype Prevalence and Gene-Disease Associations
Article by Julian Little et al.
American Journal of Epidemiology 2002; 156:300-310

Genetic Test Evaluation: Information Needs of Clinicians, Policy-Makers and the Public
Article by Wylie Burke et al.
American Journal of Epidemiology2002; 156:311-318

Human Genome Epidemiology Information (HuGE) on the Internet: Current Resources and Future Prospects
Article by Adam Marks and Paula Yoon, (2002)

Human Genome Epidemiologic Reviews: the Beginning of Something HuGE
Article by Muin J. Khoury and Julian Little
American Journal of Epidemiology 2000; 151:2-3

Human Genome Epidemiology (HuGE): Translating Advances in Human Genetics into Population-based Data for Medicine and Public Health
Article by Muin J. Khoury
Genetics in Medicine, Mar (1999)

The Human Genome Epidemiology Network (HuGENet™)
Editorial by Muin J. Khoury and Janice S. Dorman
American Journal of Epidemiology 1998; 198:4
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Page last updated: October 28, 2008
Content Source: National Office of Public Health Genomics