The DOI matches its Crossref record; 121 of the 121 references it cites were found in a registry or an index.
Validating, augmenting and refining genome-wide association signals
Open accessAbstract
Studies using genome-wide platforms have yielded an unprecedented number of promising signals of association between genomic variants and human traits. This Review addresses the steps required to validate, augment and refine such signals to identify underlying causal variants for well-defined phenotypes. These steps include: large-scale exact replication across both similar and diverse populations; fine mapping and resequencing; determination of the most informative markers and multiple independent informative loci; incorporation of functional information; and improved phenotype mapping of the implicated genetic effects. Even in cases for which replication proves that an effect exists, confident localization of the causal variant often remains elusive.
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Cites
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Genomewide Association Studies and Assessment of the Risk of Disease
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Forstmeier, W., & Schielzeth, H. (2011) · Behavioral Ecology and Sociobiology · doi:10.1007/s00265-010-1038-5 · Cited by 1,120
Pleiotropy in complex traits: challenges and strategies
Solovieff, N., Cotsapas, C., Lee, P. H., Purcell, S. M., & Smoller, J. W. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3461 · Cited by 1,085
The Genetics of Alzheimer Disease: Back to the Future
Bertram, L., Lill, C. M., & Tanzi, R. E. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.013 · Cited by 834
Meta-analysis and imputation refines the association of 15q25 with smoking quantity
The Wellcome Trust Case Control Consortium, Liu, J. Z., Tozzi, F., Waterworth, D. M., Pillai, S. G., Muglia, P., Middleton, L., Berrettini, W., Knouff, C. W., Yuan, X., et al. (2010) · Nature Genetics · doi:10.1038/ng.572 · Cited by 614
Metadata
- Authors
- Ioannidis, J. P. A., Thomas, G., & Daly, M. J.
- Venue
- Nature Reviews Genetics
- Published
- 2009-05
- Volume
- 10
- Issue
- 5
- Pages
- 318-329
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2069971071
- Cited by
- 375
- References
- 121
- FWCI
- 4.94
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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