Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel-Servet, Geneva 1211, Switzerland.
Nat Rev Genet. 2011 Apr;12(4):277-82. doi: 10.1038/nrg2969. Epub 2011 Mar 9.
Approaches that combine expression quantitative trait loci (eQTLs) and genome-wide association (GWA) studies are offering new functional information about the aetiology of complex human traits and diseases. Improved study designs--which take into account technological advances in resolving the transcriptome, cell history and state, population of origin and diverse endophenotypes--are providing insights into the architecture of disease and the landscape of gene regulation in humans. Furthermore, these advances are helping to establish links between cellular effects and organismal traits.
结合表达数量性状基因座 (eQTLs) 和全基因组关联 (GWA) 研究的方法，为复杂人类特征和疾病的病因提供了新的功能信息。改进的研究设计——考虑到解析转录组、细胞历史和状态、起源种群和不同的内表型的技术进步——为疾病结构和人类基因调控景观提供了深入了解。此外，这些进展有助于在细胞效应和机体特征之间建立联系。
