Worthey Elizabeth A, Stoddard Alexander J, Jacob Howard J
Human & Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Methods Mol Biol. 2010;597:33-53. doi: 10.1007/978-1-60327-389-3_3.
The rat is an important system for modeling human disease. Four years ago, the rich 150-year history of rat research was transformed by the sequencing and annotation of the rat genome, ushering in an era of exceptional opportunity for identifying genes and pathways underlying disease phenotypes. With the genome sequence in place, there is the prospect of not only linking the extensive literature of mechanistic and pharmacological studies in the rat to its genome, but by using comparative genomics to other organisms as well. Genome-wide association studies (GWAS) in human populations have recently provided a direct approach for finding robust genetic associations in common diseases, but identifying the precise genes and their mechanisms of action remains challenging.The explosion of genomic tools and sequence over the last decade has created a wealth of data. Along with the data has arisen a need to manage it and to make it usable to scientists with a wide-range of research interests. This chapter is designed to overview the existing sequence and its utility, as well as provide a glimpse of some of the databases and bioinformatic tools available to the investigator.
大鼠是人类疾病建模的重要系统。四年前,大鼠150年丰富的研究历史因大鼠基因组的测序和注释而发生了变革,开启了一个识别疾病表型潜在基因和通路的绝佳机遇时代。有了基因组序列,不仅有望将大鼠大量的机制和药理学研究文献与基因组联系起来,还能通过比较基因组学与其他生物建立联系。人类群体中的全基因组关联研究(GWAS)最近为在常见疾病中发现可靠的基因关联提供了一种直接方法,但确定精确的基因及其作用机制仍然具有挑战性。在过去十年中,基因组工具和序列呈爆炸式增长,产生了大量数据。随着数据的出现,管理这些数据并使其可供具有广泛研究兴趣的科学家使用的需求也随之而来。本章旨在概述现有序列及其用途,并简要介绍一些可供研究人员使用的数据库和生物信息学工具。