Technological Issues and Experimental Design of Gene Association Studies
Technological Issues and Experimental Design of Gene Association Studies
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DOI：
10.1007/978-1-61737-954-3_1
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发表时间：
2011-01-01
期刊：
影响因子：
--
通讯作者：
Taverna, Darin M.
中科院分区：
文献类型：
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作者：
DiStefano, Johanna K.;Taverna, Darin M.
全基因组关联研究是在表型良好的个体中对跨越基因组的数千个单核苷酸多态(SNPs)进行基因分型的研究，目前是识别与常见疾病和相关数量性状相关的基因区域的最流行的策略。技术和生产能力的提高，强大的统计工具的开发，以及对基于混合的基因分型方法的更广泛接受，导致了在人类遗传学研究中更多地使用GWAs。然而，优化实验设计的重要考虑因素，包括选择最合适的基因分型平台，可以进一步增强该方法的实用性。本章回顾了可能影响Gwas发现成功的实验和技术问题，并提出了针对感兴趣人群开发最全面、最合乎逻辑和最具成本效益的基因分型方法的战略。
Genome-wide association studies (GWAS), in which thousands of single-nucleotide polymorphisms (SNPs) spanning the genome are genotyped in individuals who are phenotypically well characterized, currently represent the most popular strategy for identifying gene regions associated with common diseases and related quantitative traits. Improvements in technology and throughput capability, development of powerful statistical tools, and more widespread acceptance of pooling-based genotyping approaches have led to greater utilization of GWAS in human genetics research. However, important considerations for optimal experimental design, including selection of the most appropriate genotyping platform, can enhance the utility of the approach even further. This chapter reviews experimental and technological issues that may affect the success of GWAS findings and proposes strategies for developing the most comprehensive, logical, and cost-effective approaches for genotyping given the population of interest.