Study designs for genome-wide association studies.

摘要: Abstract Advances in high‐throughput genotyping and a flood of data on human genetic variation from the Human Genome HapMap projects have made genome‐wide association studies technically feasible. However, researchers designing such face number challenges, including how to avoid subtle systematic biases achieve sufficient statistical power distinguish modest signals chance associations. In many situations, it remains prohibitively expensive genotype all desired samples using array, so multistage designs are an attractive cost‐saving measure. Here, we review some basic design principles for studies, discuss properties fixed custom arrays as they relate study design, present theoretical framework practical tools calculations. We close with discussion limitations designs.