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基因关联研究的技术问题与实验设计

Technological issues and experimental design of gene association studies.

作者信息

Distefano Johanna K, Taverna Darin M

机构信息

Diabetes, Cardiovascular, and Metabolic Diseases Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

出版信息

Methods Mol Biol. 2011;700:3-16. doi: 10.1007/978-1-61737-954-3_1.


DOI:10.1007/978-1-61737-954-3_1
PMID:21204023
Abstract

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.

摘要

全基因组关联研究(GWAS)是指在表型特征明确的个体中对跨越基因组的数千个单核苷酸多态性(SNP)进行基因分型,目前它是识别与常见疾病及相关数量性状相关基因区域最常用的策略。技术和通量能力的提升、强大统计工具的开发以及基于混合样本基因分型方法的更广泛应用,使得GWAS在人类遗传学研究中的应用更加广泛。然而,优化实验设计的重要考量因素,包括选择最合适的基因分型平台,能够进一步提高该方法的效用。本章回顾了可能影响GWAS研究结果成功与否的实验和技术问题,并针对特定感兴趣人群,提出了开发最全面、合理且具有成本效益的基因分型方法的策略。

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