Oti Martin, Ballouz Sara, Wouters Merridee A
Structural and Computational Biology Division, Victor Chang Cardiac Research Institute, 2010, Darlinghurst, NSW, Australia.
Methods Mol Biol. 2011;760:189-206. doi: 10.1007/978-1-61779-176-5_12.
Despite increasing sequencing capacity, genetic disease investigation still frequently results in the identification of loci containing multiple candidate disease genes that need to be tested for involvement in the disease. This process can be expedited by prioritizing the candidates prior to testing. Over the last decade, a large number of computational methods and tools have been developed to assist the clinical geneticist in prioritizing candidate disease genes. In this chapter, we give an overview of computational tools that can be used for this purpose, all of which are freely available over the web.
尽管测序能力不断提高，但遗传疾病调查仍经常导致发现包含多个候选疾病基因的基因座，这些基因座需要进行疾病相关性检测。在检测之前对候选基因进行优先级排序可以加快这一过程。在过去十年中，已经开发了大量的计算方法和工具来帮助临床遗传学家对候选疾病基因进行优先级排序。在本章中，我们将概述可用于此目的的计算工具，所有这些工具都可以通过网络免费获得。
