Department of Biomedical Informatics, Center for Human Genetics Research, Vanderbilt University Medical School, Nashville, Tennessee, United States of America.
PLoS Comput Biol. 2012;8(12):e1002822. doi: 10.1371/journal.pcbi.1002822. Epub 2012 Dec 27.
Genome-wide association studies (GWAS) have evolved over the last ten years into a powerful tool for investigating the genetic architecture of human disease. In this work, we review the key concepts underlying GWAS, including the architecture of common diseases, the structure of common human genetic variation, technologies for capturing genetic information, study designs, and the statistical methods used for data analysis. We also look forward to the future beyond GWAS.
全基因组关联研究(GWAS)在过去十年中发展成为研究人类疾病遗传结构的有力工具。在这项工作中,我们回顾了 GWAS 所基于的关键概念,包括常见疾病的结构、常见人类遗传变异的结构、捕获遗传信息的技术、研究设计以及用于数据分析的统计方法。我们还展望了 GWAS 之外的未来。