The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Testing Association of Statistically Inferred Haplotypes with Discrete and Continuous Traits in Samples of Unrelated Individuals
Abstract
There have been increasing efforts to relate drug efficacy and disease predisposition with genetic polymorphisms. We present statistical tests for association of haplotype frequencies with discrete and continuous traits in samples of unrelated individuals. Haplotype frequencies are estimated through the expectation-maximization algorithm, and each individual in the sample is expanded into all possible haplotype configurations with corresponding probabilities, conditional on their genotype. A regression-based approach is then used to relate inferred haplotype probabilities to the response. The relationship of this technique to commonly used approaches developed for case-control data is discussed. We confirm the proper size of the test under H₀ and find an increase in power under the alternative by comparing test results using inferred haplotypes with single-marker tests using simulated data. More importantly, analysis of real data comprised of a dense map of single nucleotide polymorphisms spaced along a 12-cM chromosomal region allows us to confirm the utility of the haplotype approach as well as the validity and usefulness of the proposed statistical technique. The method appears to be successful in relating data from multiple, correlated markers to response.
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Cites
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A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,493
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Cited by
PowerMarker: an integrated analysis environment for genetic marker analysis
Liu, K., & Muse, S. V. (2005) · Bioinformatics · doi:10.1093/bioinformatics/bti282 · Cited by 4,471
Pedigree disequilibrium tests for multilocus haplotypes.
Dudbridge, F. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10252 · Cited by 1,135
Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990
The Future of Association Studies: Gene-Based Analysis and Replication
Neale, B. M., & Sham, P. C. (2004) · The American Journal of Human Genetics · doi:10.1086/423901 · Cited by 606
Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies
Wu, M. C., Kraft, P., Epstein, M. P., Taylor, D. M., Chanock, S. J., Hunter, D. J., & Lin, X. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.05.002 · Cited by 592
Metadata
- Authors
- Zaykin, D. V., Westfall, P. H., Young, S. S., Karnoub, M. A., Wagner, M. J., & Ehm, M. G.
- Venue
- Human Heredity
- Publisher
- S. Karger AG
- Published
- 2002
- Volume
- 53
- Issue
- 2
- Pages
- 79-91
- ISSN
- 0001-5652 (ISSN-L)
- 1423-0062
- OpenAlex
- W2080766847
- Cited by
- 665
- References
- 33
- FWCI
- 24.51
- Type
- journal article
- Language
- en
- Open access
- closed
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- Zaykin, D. V., Westfall, P. H., Young, S. S., Karnoub, M. A., Wagner, M. J., & Ehm, M. G. (2002). Testing Association of Statistically Inferred Haplotypes with Discrete and Continuous Traits in Samples of Unrelated Individuals. Human Heredity. https://doi.org/10.1159/000057986
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
