药物基因组学和大型基因组数据：从实验室到临床，再回到实验室。
Pharmacogenomics and big genomic data: from lab to clinic and back again.
机构信息
Biomedical Informatics Training Program, Stanford University, Stanford, CA 94305, USA.
Department of Genetics, Stanford University, Stanford, CA 94305, USA.
出版信息
Hum Mol Genet. 2018 May 1;27(R1):R72-R78. doi: 10.1093/hmg/ddy116.
Abstract
The field of pharmacogenomics is an area of great potential for near-term human health impacts from the big genomic data revolution. Pharmacogenomics research momentum is building with numerous hypotheses currently being investigated through the integration of molecular profiles of different cell lines and large genomic data sets containing information on cellular and human responses to therapies. Additionally, the results of previous pharmacogenetic research efforts have been formulated into clinical guidelines that are beginning to impact how healthcare is conducted on the level of the individual patient. This trend will only continue with the recent release of new datasets containing linked genotype and electronic medical record data. This review discusses key resources available for pharmacogenomics and pharmacogenetics research and highlights recent work within the field.
摘要
药物基因组学领域是从大型基因组数据革命中获得近期人类健康影响的极具潜力的领域。药物基因组学研究的势头正在增强，目前正在通过整合不同细胞系的分子谱和包含细胞和人类对治疗反应信息的大型基因组数据集来研究众多假说。此外，先前药物遗传学研究工作的结果已被纳入临床指南，这些指南开始影响如何在个体患者层面开展医疗保健。随着最近包含关联基因型和电子病历数据的新数据集的发布，这种趋势只会继续下去。这篇综述讨论了药物基因组学和药物遗传学研究的可用关键资源，并重点介绍了该领域的最新工作。
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