Cost-Effective Designs for Linkage Disequilibrium Mapping of Complex Traits
| Autor: | Susan K. Service, Lodewijk A. Sandkuijl, Nelson B. Freimer |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Genetic Markers
Linkage disequilibrium Genotype Computer science Cost-Benefit Analysis Single-nucleotide polymorphism Polymorphism Single Nucleotide Sensitivity and Specificity Linkage Disequilibrium 03 medical and health sciences Gene Frequency Statistics Genetics Humans Genetics(clinical) Set (psychology) Genotyping health care economics and organizations Genetics (clinical) 030304 developmental biology Linkage (software) 0303 health sciences Linkage Disequilibrium Mapping 030305 genetics & heredity Chromosome Mapping Articles Phenotype Research Design Sample size determination Sample Size Genomewide association |
| Zdroj: | The American Journal of Human Genetics. 72:1213-1220 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/375165 |
| Popis: | The current development of densely spaced collections of single nucleotide polymorphisms (SNPs) will lead to genomewide association studies for a wide range of diseases in many different populations. Determinations of the appropriate number of SNPs to genotype involve a balancing of power and cost. Several variables are important in these determinations. We show that there are different combinations of sample size and marker density that can be expected to achieve the same power. Within certain bounds, investigators can choose between designs with more subjects and fewer markers or those with more markers and fewer subjects. Which designs are more cost-effective depends on the cost of phenotyping versus the cost of genotyping. We show that, under the assumption of a set cost for genotyping, one can calculate a “threshold cost” for phenotyping; when phenotyping costs per subject are less than this threshold, designs with more subjects will be more cost-effective than designs with more markers. This framework for determining a cost-effective study will aid in the planning of studies, especially if there are choices to be made with respect to phenotyping methods or study populations. |
| Databáze: | OpenAIRE |
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