Hernandez-Boussard Tina, Woon Mark, Klein Teri E, Altman Russ B
Department of Genetics, Stanford University Medical School, Stanford, California, USA.
OMICS. 2006 Winter;10(4):545-54. doi: 10.1089/omi.2006.10.545.
With the completion of the Human Genome Project, a new emphasis is focusing on the sequence variation and the resulting phenotype. The number of data available from genomic studies addressing this relationship is rapidly growing. In order to analyze these data as a whole, they need to be integrated, aggregated and annotated in a timely manner. The Pharmacogenetics and Pharmacogenomics Knowledge Base PharmGKB; (<www.pharmgkb.org>) assembles and disseminates these data and their associated metadata that are needed for unambiguous identification and replication. Assembling these data in a timely manner is challenging, and the scalability of these data produce major challenges for a knowledge base such as PharmGKB. However, it is only through rapid global meta-annotation of these data that we will understand the relationship between specific genotype(s) and the related phenotype. PharmGKB has confronted these challenges, and these experiences and solutions can benefit all genome communities.
随着人类基因组计划的完成，新的重点聚焦于序列变异及其产生的表型。涉及这种关系的基因组研究可得的数据数量正在迅速增长。为了对这些数据进行整体分析，需要及时对它们进行整合、汇总和注释。药物遗传学和药物基因组学知识库PharmGKB（<www.pharmgkb.org>）收集并传播这些数据及其相关元数据，这些是明确识别和复制所需的。及时收集这些数据具有挑战性，而且这些数据的可扩展性给像PharmGKB这样的知识库带来了重大挑战。然而，只有通过对这些数据进行快速的全球元注释，我们才能理解特定基因型与相关表型之间的关系。PharmGKB已经应对了这些挑战，这些经验和解决方案能让所有基因组群体受益。
