Biorepositories and Biospecimen Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD 20892, USA.
J Pers Med. 2015 Feb 5;5(1):22-9. doi: 10.3390/jpm5010022.
Evaluation of how genetic mutations or variability can directly affect phenotypic outcomes, the development of disease, or determination of a tailored treatment protocol is fundamental to advancing personalized medicine. To understand how a genotype affects gene expression and specific phenotypic traits, as well as the correlative and causative associations between such, the Genotype-Tissue Expression (GTEx) Project was initiated The GTEx collection of biospecimens and associated clinical data links extensive clinical data with genotype and gene expression data to provide a wealth of data and resources to study the underlying genetics of normal physiology. These data will help inform personalized medicine through the identification of normal variation that does not contribute to disease. Additionally, these data can lead to insights into how gene variation affects pharmacodynamics and individualized responses to therapy.
评估遗传突变或变异性如何直接影响表型结果、疾病的发展，或确定个性化的治疗方案，这对于推进个性化医学至关重要。为了了解基因型如何影响基因表达和特定的表型特征，以及这些因素之间的相关性和因果关系，启动了基因型-组织表达（GTEx）项目。GTEx 生物样本集和相关临床数据将广泛的临床数据与基因型和基因表达数据联系起来，为研究正常生理学的潜在遗传学提供了丰富的数据和资源。这些数据将通过识别不会导致疾病的正常变异来帮助实现个性化医疗。此外，这些数据还可以深入了解基因变异如何影响药效学和对治疗的个体化反应。
