Division of Genomic Medicine
- Quality control and quality assurance in genotypic data for genome-wide association studies [ncbi.nlm.nih.gov]
Laurie CC, Doheny KF, Mirel DB, Pugh EW, Bierut LJ, Bhangale T, Boehm T, Caporaso NE, Cornelis MC, Edenberg HJ, Gabriel SB, Harris EL, Hu FB, Jacobs KB, Kraft B, Landi MT, Lumley T, Manolio T, McHugh C, Painter I, Paschall J, Rice JP, Rice KM, Zheng X, Weir BS for the GENEVA Investigators. Genetic Epidemiology, August 17, 2010.
Description of quality control and quality assurance in the design and execution of genome-wide association studies (GWAS).
- Genomewide Association Studies and Assessment of the Risk of Disease [www.nejm.org]
Manolio TA. New England Journal of Medicine, July 8, 2010
A New England Journal of Medicine series that examines the past 10 years of accomplishments in the quest to screen, prevent and treat disease in the new world of genomic medicine. The second in the series, Genomewide Association Studies and Assessment of the Risk of Disease, finds genomewide association studies have proved successful in identifying genetic associations with complex traits, opening doors to potential treatments.
- The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions [ncbi.nlm.nih.gov]
Cornelis MC, Agrawal A, Cole JW, Hansel NH, Barnes KC, Beaty TH, Bennett SN, Bierut LJ, Boerwinkle E, Doheny KF, Feenstra B, Feingold E, Fornage M, Haiman CA, Harris EL, Hayes MG, Heit JA, Hu FB, Kang JH, Laurie CC, Ling H, Manolio TA, Marazita ML, Matthias RA, Mirel DB, Paschall J, Pasquale LR, Pugh EW, Rice JP, Udren J, van Dam RM, Wang X, Wiggs JL, Williams K, Yu K for the GENEVA Consortium. Genetic Epidemiology, May 2010.
Description of the design of the Gene, Environment Association Studies (GENEVA) consortium. By maximizing knowledge obtained through collaborative GWAS incorporating environmental exposure information, GENEVA aims to enhance our understanding of disease etiology, potentially identifying opportunities for intervention.
Potential etiologic and functional implications of
genome-wide association loci for human diseases
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS and Manolio TA. PNAS, May 27, 2009.
Description of the design, interpretation and application of an online catalog of SNP-trait associations from published genome-wide association (GWA) studies.
- Collaborative genome-wide association studies of diverse diseases: Programs of the NHGRI's Office of Population Genomics [ncbi.nlm.nih.gov]
Manolio TA. Pharmacogenomics, 10:235-241. 2009.
Description of collaborative programs within the National Human Genome Research Institutes Office of Population Genomics that facilitate collection, analysis, interpretation and dissemination of genome-wide association (GWA) study data.
- Cohort studies and the genetics of complex disease [ncbi.nlm.nih.gov]
Manolio TA. Nature Genetics, 41:5-6. 2009.
Commentary on three studies that predominantly employ a prospective cohort study design to characterize environmental exposures.
- Size matters: realistic power calculations for genetic association studies in the genomics age [ncbi.nlm.nih.gov]
Burton PR, Hansell AL, Fortier I, Manolio TA, Khoury MJ, Little J, Elliott P. International Journal of Epidemiology, 38:263-73. 2009.
Discussion of the realistic power profile of stand-alone and nested case-control studies to determine sample sizes of large disease-based consortia.
- A HapMap harvest of insights into the genetics of common disease [ncbi.nlm.nih.gov]
Manolio TA, Brooks LD, Collins FS. Journal of Clinical Investigation, 118:1590-1625. 2008.
Description of The International HapMap Project and its goals to create a genome-wide database of patterns of human genetic variation.
- Biorepositories at the bleeding edge [ncbi.nlm.nih.gov]
Discussion of the benefits and limitations of biorepositories, or "biobanks"
Manolio TA. International Journal of Epidemiology, 37: 231-3. Apr 1, 2008.
- How to Interpret a Genome-wide Association Study [jama.ama-assn.org]
Pearson TA and Manolio TA. The Journal of the American Medical Association, 299: 1335-1344. Mar 19, 2008.
Description of the design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance.
- New models of collaboration in genome-wide association studies: the Genetic Association Information Network
The GAIN Collaborative Research Group. Nature Genetics, 39: 1045-1051. Sep 1, 2007.
Description of the Genetic Association Information Network (GAIN) and its contribution as a new method of research aiming towards rapid advances in the understanding of the genetics of complex diseases.
- Replicating genotype-phenotype associations
NCI-NHGRI Working Group on Replication in Association Studies. Nature, 447: 655-660. Jun 1, 2007.
Discussion of the importance of replication, and how to define it.
- Genes, environment, health, and disease: facing up to complexity [ncbi.nlm.nih.gov]
Manolio TA and Collins FS. Human Heredity, 63: 63-66. Feb 2, 2007.
Description of the complexity of human disease, and how to identify and interpret gene x gene and gene x environment interactions.
- Merging and emerging cohorts: necessary but not sufficient
Nature, 445: 259. Jan 18, 2007.
Commentary on the benefits and pitfalls of extending existing cohorts versus starting new cohorts.
- Taking our obligations to research participants seriously: disclosing individual results of genetic research [ncbi.nlm.nih.gov]
Manolio TA, The American Journal of Bioethics, 6: 32-34. Nov 1, 2006.
Commentary on the disclosure of results to research participants.
- Genes, environment and the value of prospective cohort studies
Manolio TA, Bailey-Wilson JE and Collins FS. Nature, 7: 812-820. Oct 1, 2006.
Discussion of the importance of prospective cohort studies.
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Last Reviewed: March 9, 2011