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Abstract:
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In the past, to study Mendelian diseases, segregating families have been ascertained for segregation analysis, followed by linkage analysis. This would then be followed by association studies. Recently, for more complex diseases, the initial sampling has been for a genome-wide linkage analysis to identify candidate regions for follow-up with association studies. We now have the ability to conduct genome-wide association studies using 100K to 500K diallelic genetic markers. For such studies we focus on efficient two-stage association sampling designs, which can retain nearly optimal statistical power at about half the genotyping cost. Similarly, beginning an association study by genotyping pooled samples may also be a viable option if the cost of accurately pooling DNA samples outweighs genotyping costs.
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