Genome-wide association studies in pharmacogenomics: untapped potential for translation (2009)
Guessous, Idris, Gwinn, Marta, Khoury, Muin J
Abstract Despite large public investments in genome-wide association studies of common human diseases, so far, few gene discoveries have led to applications for clinical medicine or public health....
Yu, Wei, Ned, Renée, Wulf, Anja, Liu, Tiebin, Khoury, Muin J, Gwinn, Marta
Abstract We analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. The proportion of abstracts...
Chang, Man-huei, Lindegren, Mary Lou, Butler, Mary A., Chanock, Stephen J., Dowling, Nicole F., Gallagher, Margaret, ...
Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes....
Khoury, Muin J., Bertram, Lars, Boffetta, Paolo, Butterworth, Adam S., Chanock, Stephen J., Dolan, Siobhan M., ...
Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to...
Khoury, Muin J., Wacholder, Sholom
The recent success of genome-wide association studies in finding susceptibility genes for many common diseases presents tremendous opportunities for epidemiologic studies of environmental risk...
Burton, Paul R, Hansell, Anna L, Fortier, Isabel, Manolio, Teri A, Khoury, Muin J, Little, Julian, ...
Background Despite earlier doubts, a string of recent successes indicates that if sample sizes are large enough, it is possible—both in theory and in practice—to identify and replicate genetic...
Yu, Wei, Wulf, Anja, Liu, Tiebin, Khoury, Muin J, Gwinn, Marta
Abstract Background Millions of single nucleotide polymorphisms have been identified as a result of the human genome project and the rapid advance of high throughput genotyping technology. Genetic...
THE INTERFACE OF EPIDEMIOLOGIC METHODS Interface of Genetics and Epidemiology (2008)
Terri H. Beaty, Muin J. Khoury
Genetic epidemiology is a hybrid discipline with a relatively short history of less than 50 years. The first mention of "epidemiologic genetics " can be found in the 1954 book by...
Moonesinghe, Ramal, Yang, Quanhe, Khoury, Muin J
Abstract Background Because common diseases are caused by complex interactions among many genetic variants along with environmental risk factors, very large sample sizes are usually needed to detect...
George Davey Smith, Marta Gwinn, Shah Ebrahim, Lyle J Palmer, Muin J Khoury
scientific evidence that can ultimately form the basis of strategies for improving population health. Hence, the IJE would be expected to remain cautious about the technological advances heralded by...
Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment (2008)
Yesupriya, Ajay, Evangelou, Evangelos, Kavvoura, Fotini K, Patsopoulos, Nikolaos A, Clyne, Melinda, Walsh, Matthew C, ...
Abstract Background Several thousand human genome epidemiology association studies are published every year investigating the relationship between common genetic variants and diverse phenotypes....
Yu, Wei, Clyne, Melinda, Dolan, Siobhan M, Yesupriya, Ajay, Wulf, Anja, Liu, Tiebin, ...
Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic...
Emerging Themes in Epidemiology 2008, 5:24 doi:10.1186/1742-7622-5-24 (2008)
Ramal Moonesinghe, Quanhe Yang, Muin J Khoury, Ramal Moonesinghe, Quanhe Yang, Muin J. Khoury
This Provisional PDF corresponds to the article as it appeared upon acceptance. Copyedited and fully formatted PDF and full text (HTML) versions will be made available soon. Sample size requirements...
Assessment of cumulative evidence on genetic associations: interim guidelines (2008)
Ioannidis, John PA, Boffetta, Paolo, Little, Julian, OBrien, Thomas R, Uitterlinden, Andre G, Vineis, Paolo, ...
Established guidelines for causal inference in epidemiological studies may be inappropriate for genetic associations. A consensus process was used to develop guidance criteria for assessing...
Bmc Bioinformatics, Wei Yu, Melinda Clyne, Siobhan M Dolan, Ajay Yesupriya, Anja Wulf, ...
Software GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique
Quanhe Yang, Muin J. Khoury, Ph. D
this paper, we review epidemiologic concepts and definitions applied to gene-environment interaction and give an overview of both traditional and emerging approaches to the study of geneenvironment...
Yu, Wei, Yesupriya, Ajay, Wulf, Anja, Qu, Junfeng, Khoury, Muin J, Gwinn, Marta
Abstract Background Identifying relevant research in an ever-growing body of published literature is becoming increasingly difficult. Establishing domain-specific knowledge bases may be a more...
Family History and Prevalence of Diabetes in the U.S. Population (2007)
VALDEZ, RODOLFO, YOON, PAULA W., LIU, TIEBIN, KHOURY, MUIN J.
OBJECTIVE— We sought to test the association between stratified levels of familial risk of diabetes and the prevalence of the disease in the U.S. population. RESEARCH DESIGN AND METHODS— This...
Higgins, Julian P. T., Little, Julian, Ioannidis, John P. A., Bray, Molly S., Manolio, Teri A., Smeeth, Liam, ...
An automatic method to generate domain-specific investigator networks using PubMed abstracts (2007)
Yu, Wei, Yesupriya, Ajay, Wulf, Anja, Qu, Junfeng, Gwinn, Marta, Khoury, Muin J
Abstract Background Collaboration among investigators has become critical to scientific research. This includes ad hoc collaboration established through personal contacts as well as formal consortia...
Khoury, Muin J, Little, Julian, Gwinn, Marta, Ioannidis, John PA
Emerging technologies are allowing researchers to study hundreds of thousands of genetic variants simultaneously as risk factors for common complex diseases. Both theoretical considerations and...
BMC Bioinformatics BioMed Central Methodology article (2007)
Wei Yu, Ajay Yesupriya, Anja Wulf, Junfeng Qu, Muin J Khoury, Muin J Khoury, ...
open source infrastructure for managing knowledge and finding potential collaborators in a domain-specific subset of PubMed, with an example from human genome epidemiology
BMC Medical Informatics and Decision Making (2007)
Wei Yu, Ajay Yesupriya, Anja Wulf, Junfeng Qu, Marta Gwinn, Muin J Khoury, ...
Research article An automatic method to generate domain-specific investigator networks using PubMed abstracts
Family history of type 2 diabetes: A population-based screening tool for prevention? (2006)
Hariri, Susan, Yoon, Paula W., Qureshi, Nadeem, Valdez, Rodolfo, Scheuner, Maren T., Khoury, Muin J.
Purpose: To evaluate the use of self-reported family medical history as a potential screening tool to identify people at-risk for diabetes. Methods: The HealthStyles 2004 mail survey comprises 4345...
Make it HuGE: human genome epidemiology reviews, population health, and the IJE (2006)
Smith, George Davey, Gwinn, Marta, Ebrahim, Shah, Palmer, Lyle J, Khoury, Muin J
Ioannidis, John P. A., Trikalinos, Thomas A., Khoury, Muin J.
Accumulated evidence from searching for candidate gene-disease associations of complex diseases can offer some insights as the field moves toward discovery-oriented approaches with massive...
Trikalinos, Thomas A., Salanti, Georgia, Khoury, Muin J., Ioannidis, John P. A.
The authors evaluated whether statistically significant violations of Hardy-Weinberg equilibrium (HWE) or the magnitude of deviations from HWE may contribute to the problem of replicating postulated...
Lin, Bruce K., Clyne, Melinda, Walsh, Matthew, Gomez, Onnalee, Yu, Wei, Gwinn, Marta, ...
Completion of the human genome sequence has inspired a new wave of epidemiologic studies on the prevalence of gene variants and their associations with diseases in human populations. In 2001, the...
Make it HuGE: human genome epidemiology reviews, population health, and the IJE (2006)
Smith, George Davey, Gwinn, Marta, Ebrahim, Shah, Palmer, Lyle J., Khoury, Muin J.
Khoury, Muin J, Little, Julian, Gwinn, Marta, Ioannidis, John PA
Emerging technologies are allowing researchers to study hundreds of thousands of genetic variants simultaneously as risk factors for common complex diseases. Both theoretical considerations and...
How many genes underlie the occurrence of common complex diseases in the population? (2005)
Yang, Quanhe, Khoury, Muin J, Friedman, JM, Little, Julian, Flanders, W Dana
Background Most common human diseases are due to complex interactions among multiple genetic variants and environmental risk factors. There is debate over whether variants of a relatively small...
A Network of Investigator Networks in Human Genome Epidemiology (2005)
Ioannidis, John P. A., Bernstein, Jonine, Boffetta, Paolo, Danesh, John, Dolan, Siobhan, Hartge, Patricia, ...
The task of identifying genetic determinants for complex, multigenetic diseases is hampered by small studies, publication and reporting biases, and lack of common standards worldwide. The authors...
Do We Need Genomic Research for the Prevention of Common Diseases with Environmental Causes? (2005)
Khoury, Muin J., Davis, Robert, Gwinn, Marta, Lindegren, Mary Lou, Yoon, Paula
Concerns have been raised about the value of genomic research for prevention and public health, especially for complex diseases with risk factors that are amenable to environmental modification....
How many genes underlie the occurrence of common complex diseases in the population? (2005)
Yang, Quanhe, Khoury, Muin J., Friedman, J. M., Little, Julian, Dana Flanders, W.
Background Most common human diseases are due to complex interactions among multiple genetic variants and environmental risk factors. There is debate over whether variants of a relatively small...
How many genes underlie the occurrence of common complex diseases in the population? (2005)
Yang, Quanhe, Khoury, Muin J., Friedman, J. M., Little, Julian, Dana Flanders, W.
Background Most common human diseases are due to complex interactions among multiple genetic variants and environmental risk factors. There is debate over whether variants of a relatively small...
A Network of Investigator Networks in Human Genome Epidemiology (2005)
Ioannidis, John P. A., Bernstein, Jonine, Boffetta, Paolo, Danesh, John, Dolan, Siobhan, Hartge, Patricia, ...
The task of identifying genetic determinants for complex, multigenetic diseases is hampered by small studies, publication and reporting biases, and lack of common standards worldwide. The authors...
A Network of Investigator Networks in Human Genome Epidemiology (2005)
Ioannidis, John P. A., Bernstein, Jonine, Boffetta, Paolo, Danesh, John, Dolan, Siobhan, Hartge, Patricia, ...
The task of identifying genetic determinants for complex, multigenetic diseases is hampered by small studies, publication and reporting biases, and lack of common standards worldwide. The authors...
The emergence of epidemiology in the genomics age (2004)
Khoury, Muin J., Millikan, Robert, Little, Julian, Gwinn, Marta
The emergence of epidemiology in the genomics age (2004)
Khoury, Muin J, Millikan, Robert, Little, Julian, Gwinn, Marta
The Human Genome Project Is Complete. How Do We Develop a Handle for the Pump? (2003)
Little, Julian, Khoury, Muin J., Bradley, Linda, Clyne, Mindy, Gwinn, Marta, Lin, Bruce, ...
Botto, Lorenzo D., Khoury, Muin J.
As a result of the Human Genome Project, epidemiologists can study thousands of genes and their interaction with the environment. The challenge is how to best present and analyze such studies of...
{{delta}}-Aminolevulinic Acid Dehydratase Genotype and Lead Toxicity: A HuGE Review (2001)
Kelada, Samir N., Shelton, Erin, Kaufmann, Rachel B., Khoury, Muin J.
The ALAD gene (chromosome 9q34) codes for δ-aminolevulinic acid dehydratase (ALAD) (E.C. 4.2.1.24). ALAD catalyzes the second step of heme synthesis and is polymorphic. The ALAD G177C polymorphism...
Bias Associated with Study Protocols in Epidemiologic Studies of Disease Familial Aggregation (2000)
Bai, Yan, Sherman, Stephanie, Khoury, Muin J., Flanders, W. Dana
The effect of selection bias has not been well evaluated in epidemiologic studies which focus on familial aggregation. The authors illustrate this type of bias for a reconstructed cohort study. With...
Transmission Disequilibrium Test (TDT) when Only One Parent Is Available The 1-TDT (1999)
Sun, Fengzhu, Flanders, W. Dana, Yang, Quanhe, Khoury, Muin J.
The transmission disequilibrium test (TDT) is a useful method to locate mutations linked to disease genes associated with complex diseases. TDT requires genotypes of affected individuals and their...
Yang, Quanhe, Khoury, Muin J., Rodriguez, Carmen, Calle, Eugenia E., Tatham, Lilith M., Flanders, W. Dana
A consistent predictor of a woman's risk for breast cancer is a family history of the disease. Most studies of family history and breast cancer have used the number of affected relatives in the...
A New Method for Estimating the Risk Ration in Studies Using Case-Partental Control Design (1998)
Sun, Fengzhu, Flanders, W. Dana, Yang, Quanhe, Khoury, Muin J.
The authors describe a new simple noniterative, yet efficient method to estimate the risk ratio in studies using case-parental control design. The new method is compared with two other noniterative...
Sample Size Requirements in Case-Only Designs to Detect Gene-Environment Interaction (1997)
Yang, Quanhe, Khoury, Muin J., Flanders, W. Dana
With advances in molecular genetic technology, more studies will examine gene-environment interaction in disease etiology. If the primary purpose of the study is to estimate the effect of...
Genetic Epidemiology and the Future of Disease Prevention and Public Health (1997)
“As he chats with the young mother, the doctor flicks a cotton swab into the mouth of her infant son, collecting a small sample of mucus from inside his cheek. In the back room of his office, he...
Khoury, Muin J., Flanders, W. Dana
Although case-control studies are suitable for assessing gene-environment interactions, choosing appropriate control subjects is a valid concern in these studies. The authors review three...
Flanders, W. Dana, Khoury, Muin J.
Case-control studies using parents of case subjects as the control subjects provide an innovative way to study associations of genetic markers with disease risk. This approach, sometimes called the...
Monitoring For Multiple Congenital Anomalies: An International Perspective (1994)
Khoury, Muin J., Botto, Lorenzo, Mastroiacovo, Pierpaolo, Skjaerven, Rolv, Castilla, Eduardo, Erickson, J. David
Lynberg, Michele C., Khoury, Muin J., Lu, Xinpei, Cocian, Teofil
Results of clinical and epidemiologic studies have shown an increased risk for neural tube defects (NTD) in infants whose mothers were exposed to heat during pregnancy. However, the nsk for NTD in...
Minimum Sample Size Estimation to Detect Gene-Environment Interaction in Case-Control Designs (1994)
Hwang, Shih-Jen, Beaty, Terri H., Liang, Kung-Yee, Coresh, Josef, Khoury, Muin J.
As genetic markers, become more available, case-control studies will be increasingly important in defining the role of genetic factors in disease causality. The authors estimate the minimum sample...
Khoury, Muin J., James, Levy M.
With increasing availability of polymorphic DNA markers, family studies can be used to Identify linked susceptibility genes for chronic diseases. Nevertheless, in the presence of gene-environment...
Mili, Fatima, Khoury, Muin J., Flanders, W. Dana, Greenberg, Raymond S.
To evaluate the risk of childhood cancer among infants with serious birth defects, the authors linked records of the population–based registry of the Georgia Center for Cancer Statistics for 1975...
Mili, Fatima, Lynch, Charles F., Khoury, Muin J., Flanders, W. Data, Edmonds, Larry D.
To attempt to confirm associations found in a companion study in Atlanta, Georgia between Down's syndrome and acute leukemia and between pyloric stenosis and childhood cancer, the authors used the...
Khoury, Muin J., Erickson, J. David
Several birth defects surveillance systems have shown an upward trend in the birth prevalence of several congenital cardiovascular malformations. Improvements in clinical ascertainment have been...
Is There Etiologic Heterogeneity between Upper and Lower Neural Tube Defects? (1992)
Park, Christina H., Stewart, Walter, Khoury, Muin J., Mulinare, Joseph
Neural tube defects are thought to arise from two different embryologic mechanisms depending on the level of the defect: neurulation defects associated with anencephaly and upper spina bifida and...
Calle, Eugenia E., Khoury, Muin J.
Licensed hospitals usually maintain a discharge diagnoses index, which provides an inexpensive tool for the surveillance of birth defects diagnosed shortly after birth. Government agencies in several...
THE PONDERAL INDEX IN TERM NEWBORN SIBLINGS (1990)
KHOURY, MUIN J., BERG, CYNTHIA J., CALLE, EUGENIA E.
Rohrer's ponderal index in newborns (birth weight/height3×100) has been used as an indicator of fetal growth status, especially to assess asymmetrical intrauterine growth retardation. Because...
FAMILIAL CANCER HISTORY AND CHRONIC LYMPHOCYTIC LEUKEMIA: A CASE-CONTKOL STUDY (1989)
LINET, MARTHA S., VAN NATTA, MARK L., BROOKMEYER, RON, KHOURY, MUIN J., MCCAFFREY, LEE D., HUMPHREY, RICHARD L, ...
In a population-based case-control study carried out in the Baltimore, Maryland metropolitan area, family cancer history for 342 chronic lymphocytic leukemia cases diagnosed in 1969 –1982 revealed...
ON THE MEASUREMENT OF SUSCEPTIBILITY IN EPIDEMIOLOGIC STUDIES (1989)
KHOURY, MUIN J., FLANDERS, W. DANA, GREENLAND, SANDER, ADAMS, MYRON J.
Khoury, M. J. (CDC, Atlanta, GA 30333), W. D. Flanders, S. Greenland, and M. J. Adams. On the measurement of susceptibility in epidemiologic studies. Am J Epidemiol 1989;129:183–90. Although...
HUMAN TERATOGENS, PRENATAL MORTALITY, AND SELECTION BIAS (1989)
KHOURY, MUIN J., FLANDERS, W. DANA, JAMES, LEVY M, ERICKSON, J. DAVID
Etiologic inferences on human teratogens are usually derived from case-control studies conducted either at birth or in spontaneous abortion series. Because both teratogens and defects may be...
KHOURY, MUIN J., COHEN, BERNICE H., DIAMOND, EARL L., CHASE, GARY A., MCKUSICK, VICTOR A.
Epidemiologic patterns of inbreeding in the Old Order Amish were Investigated using a unique genealogic registry of Lancaster County, Pennsylvania, Amish that contains information on 8,163 marriages,...
KHOURY, MUIN J., COHEN, BERNICE H., NEWILL, CAROL A., BIAS, WILMA, MCKUSICK, VICTOR A.
The effects of offspring and parental inbreeding on prereproductive mortality (death before age 20 years) in the historical population of the Lancaster County, Pennsylvania, Old Order Amish were...
KHOURY, MUIN J., COHEN, BERNICE H., DIAMOND, EARL L., CHASE, GARY A., MCKUSICK, VICTOR A.
Direct and indirect (mediated by biologic factors) effects of inbreeding on prereproductive mortality (death before age 20 years) were investigated in a case-control study conducted in the Lancaster...
ON THE ABILITY OF BIRTH DEFECTS MONITORING TO DETECT NEW TERATOGENS (1987)
KHOURY, MUIN J., HOLTZMAN, NEIL A.
Recent concerns have been raised about the ability of birth defects monitoring programs to detect increases in the incidence of birth defects following the introduction of new teratogens. The authors...
KHOURY, MUIN J., COHEN, BERNICE H., CHASE, GARY A., DIOMOND, EARL L.
Although many studies report deleterious effects of inbreeding on prereproductive mortality (death before age 20 years), such effects are usually measured in terms of genetic load, a concept much...
Genetic-Environmental Interactions in Chronic Airways Obstruction (1986)
KHOURY, MUIN J, BEATY, TERRI H, NEWILL, CAROL A, BRYANT, STEVE, COHEN, BERNICE H
To examine patterns of interaction between cigarette smoking and genetic factors in relation to airways obstruction, cross sectional data were analysed on 1787 white non-patient adult participants in...
A genealogic study of inbreeding and prereproductive mortality in the Old Order Amish / (1985)
Typescript (photocopy).
Thesis (Ph. D.)--Johns Hopkins University, 1985.
Includes abstract and vita.
ETIOLOGIC HETEROGENEITY OF NEURAL TUBE DEFECTS: CLUES FROM EPIDEMIOLOGY (1982)
KHOURY, MUIN J, ERICKSON, J. DAVID, JAMES, LEVY M.
The epidemiology of neural tube defects was reviewed, using data from two birth defects surveiliance systems: the nationwide Birth Defects Monitoring Program and the Metropolitan Atlanta Congenltai...
The role of genetic polymorphisms in environmental health.
Kelada, Samir N, Eaton, David L, Wang, Sophia S, Rothman, Nathaniel R, Khoury, Muin J
Interest is increasing in the role of variations in the human genome (polymorphisms) in modifying the effect of exposures to environmental health hazards (often referred to as gene-environment...
Predictive genetic testing for type 2 diabetes: May raise unrealistic expectations
Gwinn, Marta, Valdez, Rodolfo, Narayan, K M Venkat, Khoury, Muin J
Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes
Yang, Quanhe, Khoury, Muin J., Botto, Lorenzo, Friedman, J. M., Flanders, W. Dana
Studies have argued that genetic testing will provide limited information for predicting the probability of common diseases, because of the incomplete penetrance of genotypes and the low magnitude of...
The role of genetic polymorphisms in environmental health.
Kelada, Samir N, Eaton, David L, Wang, Sophia S, Rothman, Nathaniel R, Khoury, Muin J
Interest is increasing in the role of variations in the human genome (polymorphisms) in modifying the effect of exposures to environmental health hazards (often referred to as gene-environment...
Predictive genetic testing for type 2 diabetes: May raise unrealistic expectations
Gwinn, Marta, Valdez, Rodolfo, Narayan, K M Venkat, Khoury, Muin J
Most Published Research Findings Are False—But a Little Replication Goes a Long Way
Moonesinghe, Ramal, Khoury, Muin J
While the authors agree with John Ioannidis that "most research findings are false," here they show that replication of research findings enhances the positive predictive value of research findings...
Reporting of Systematic Reviews: The Challenge of Genetic Association Studies
Khoury, Muin J, Little, Julian, Higgins, Julian, Ioannidis, John P. A, Gwinn, Marta
An automatic method to generate domain-specific investigator networks using PubMed abstracts
Yu, Wei, Yesupriya, Ajay, Wulf, Anja, Qu, Junfeng, Gwinn, Marta, Khoury, Muin J
Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment
Yesupriya, Ajay, Evangelou, Evangelos, Kavvoura, Fotini K, Patsopoulos, Nikolaos A, Clyne, Melinda, Walsh, Matthew C, ...
Required sample size and nonreplicability thresholds for heterogeneous genetic associations
Moonesinghe, Ramal, Khoury, Muin J., Liu, Tiebin, Ioannidis, John P. A.
Many gene–disease associations proposed to date have not been consistently replicated across different populations. Nonreplication often reflects false positives in the original claims. However,...
Little, Julian, Higgins, Julian P.T, Ioannidis, John P.A, Moher, David, Gagnon, France, Von Elm, Erik, ...
Julian Little and colleagues present the STREGA recommendations, which are aimed at improving the reporting of genetic association studies.
Chang, Man-huei, Lindegren, Mary Lou, Butler, Mary A., Chanock, Stephen J., Dowling, Nicole F., Gallagher, Margaret, ...
Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes....
Burton, Paul R, Hansell, Anna L, Fortier, Isabel, Manolio, Teri A, Khoury, Muin J, Little, Julian, ...
Background Despite earlier doubts, a string of recent successes indicates that if sample sizes are large enough, it is possible—both in theory and in practice—to identify and replicate genetic...
Developing Family Healthware, a Family History Screening Tool to Prevent Common Chronic Diseases
Yoon, Paula W., Scheuner, Maren T., Jorgensen, Cynthia, Khoury, Muin J.
Family health history reflects the effects of genetic, environmental, and behavioral factors and is an important risk factor for a variety of disorders including coronary heart disease, cancer, and...
Sample size requirements to detect the effect of a group of genetic variants in case-control studies
Gwinn, Marta, Bradley, Linda A., Oostra, Ben A., Van Duijn, Cornelia M., Khoury, Muin J.
Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE...
Yu, Wei, Ned, Renée, Wulf, Anja, Liu, Tiebin, Khoury, Muin J, Gwinn, Marta
We analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. The proportion of abstracts reporting rs...
Genome-wide association studies in pharmacogenomics: untapped potential for translation
Guessous, Idris, Gwinn, Marta, Khoury, Muin J
Despite large public investments in genome-wide association studies of common human diseases, so far, few gene discoveries have led to applications for clinical medicine or public health. Genome-wide...
Khoury, Muin J., Bertram, Lars, Boffetta, Paolo, Butterworth, Adam S., Chanock, Stephen J., Dolan, Siobhan M., ...
Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to...
Little, Julian, Higgins, Julian PT, Ioannidis, John PA, Moher, David, Gagnon, France, Von Elm, Erik, ...
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine...
The Genomic Applications in Practice and Prevention Network
Khoury, Muin J., Feero, W. Gregory, Reyes, Michele, Citrin, Toby, Freedman, Andrew, Leonard, Debra, ...
The authors describe the rationale and initial development of a new collaborative initiative, the Genomic Applications in Practice and Prevention Network. The network convened by the Centers for...
Little, Julian, Higgins, Julian P. T., Ioannidis, John P. A., Moher, David, Gagnon, France, Von Elm, Erik, ...
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine...