Section of Hematology/Oncology, Department of Medicine, 900 East 57th Street, KCBD Room 7100, The University of Chicago, Chicago, IL 60637, USA.
Pharmacogenomics. 2010 Feb;11(2):249-56. doi: 10.2217/pgs.09.173.
The 1000 Genomes Project aims to provide detailed genetic variation data on over 1000 genomes from worldwide populations using the next-generation sequencing technologies. Some of the samples utilized for the 1000 Genomes Project are the International HapMap samples that are composed of lymphoblastoid cell lines derived from individuals of different world populations. These same samples have been used in pharmacogenomic discovery and validation. For example, a cell-based, genome-wide approach using the HapMap samples has been used to identify pharmacogenomic loci associated with chemotherapeutic-induced cytotoxicity with the goal to identify genetic markers for clinical evaluation. Although the coverage of the current HapMap data is generally high, the detailed map of human genetic variation promised by the 1000 Genomes Project will allow a more in-depth analysis of the contribution of genetic variation to drug response. Future studies utilizing this new resource may greatly enhance our understanding of the genetic basis of drug response and other complex traits (e.g., gene expression), therefore, help advance personalized medicine.
1000 基因组计划旨在使用下一代测序技术，为来自全球不同人群的 1000 多个基因组提供详细的遗传变异数据。1000 基因组计划中使用的一些样本是国际人类基因组单体型图计划的样本，这些样本由来自不同世界人群的个体衍生的淋巴母细胞系组成。这些相同的样本已被用于药物基因组学的发现和验证。例如，使用 HapMap 样本的基于细胞的全基因组方法已被用于鉴定与化疗诱导的细胞毒性相关的药物基因组位，目的是鉴定用于临床评估的遗传标记。尽管当前 HapMap 数据的覆盖范围通常较高，但 1000 基因组计划所承诺的人类遗传变异详细图谱将允许更深入地分析遗传变异对药物反应的贡献。未来利用这一新资源的研究可能会极大地增进我们对药物反应和其他复杂特征（例如基因表达）的遗传基础的理解，从而有助于推进个性化医疗。
