Gamazon Eric R, Stranger Barbara E
Brief Funct Genomics. 2015 Sep;14(5):352-7. doi: 10.1093/bfgp/elv017. Epub 2015 Apr 27.
Recent years have witnessed a flurry of important technological and methodological developments in the discovery and analysis of copy number variations (CNVs), which are increasingly enabling the systematic evaluation of their impact on a broad range of phenotypes from molecular-level (intermediate) traits to higher-order clinical phenotypes. Like single nucleotide variants in the human genome, CNVs have been linked to complex traits in humans, including disease and drug response. These recent developments underscore the importance of incorporating complex forms of genetic variation into disease mapping studies and promise to transform our understanding of genome function and the genetic basis of disease. Here we review some of the findings that have emerged from transcriptome studies of CNVs facilitated by the rapid advances in -omics technologies and corresponding methodologies.
近年来，在拷贝数变异（CNV）的发现和分析方面出现了一系列重要的技术和方法进展，这越来越有助于系统评估其对从分子水平（中间）性状到高阶临床表型等广泛表型的影响。与人类基因组中的单核苷酸变异一样，CNV与人类的复杂性状有关，包括疾病和药物反应。这些最新进展凸显了将复杂形式的遗传变异纳入疾病图谱研究的重要性，并有望改变我们对基因组功能和疾病遗传基础的理解。在此，我们回顾一些由组学技术和相应方法的快速发展推动的CNV转录组研究中出现的发现。
