Evaluating coverage of genome-wide association studies

摘要: Genome-wide association studies involving hundreds of thousands SNPs in cases and controls are now underway. The first many analytical challenges these involves the choice to genotype. It is not practical construct a different panel tag for each study, so generation genome-wide scans will use predefined, commercially available marker panels, which part dictate their success or failure. We compare approaches today, show that although them provide substantial coverage common variation non-African populations, precise extent strongly dependent on frequencies alleles interest specific considerations study design. Overall, despite differences genotyping technologies, selection strategies number markers assayed, first-generation high-throughput platforms all offer similar levels genome coverage.