Association mapping

Painter, Jodie N., Nyholt, Dale R., & Montgomery, Grant W. (2011) Association mapping. Methods in Molecular Biology, 760, pp. 35-52.

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Association mapping seeks to identify marker alleles present at significantly different frequencies in cases carrying a particular disease or trait compared with controls. Genome-wide association studies are increasingly replacing candidate gene-based association studies for complex diseases, where a number of loci are likely to contribute to disease risk and the effect size of each particular risk allele is typically modest or low. Good study design is essential to the success of an association study, and factors such as the heritability of the disease under investigation, the choice of controls, statistical power, multiple testing and whether the association can be replicated need to be considered before beginning. Likewise, thorough quality control of the genotype data needs to be undertaken prior to running any association analyses. Finally, it should be kept in mind that a significant genetic association is not proof positive that a particular genetic locus causes a disease, but rather an important first step in discovering the genetic variants underlying a complex disease.

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ID Code: 91913
Item Type: Journal Article
Refereed: Yes
Keywords: *Chromosome Mapping, Computational Biology/*methods, *Genome-Wide Association Study, Humans, Models, Genetic, Quality Control, Research Design, Software
DOI: 10.1007/978-1-61779-176-5_3
ISSN: 1940-6029
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 15 Jan 2016 00:00
Last Modified: 20 Jan 2016 04:13

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