Leiva-Torres Gabriel A, Nebesio Nestor, Vidal Silvia M
Department of Human Genetics, McGill University, Montreal, QC, Canada.
McGill University Research Center on Complex Traits, Montreal, QC, Canada.
Methods Mol Biol. 2017;1656:209-227. doi: 10.1007/978-1-4939-7237-1_14.
The clinical course of any viral infection greatly differs in individuals. This variation results from various viral, host, and environmental factors. The identification of host genetic factors influencing inter-individual variation in susceptibility to several pathogenic viruses has tremendously increased our understanding of the mechanisms and pathways required for immunity. Next-generation sequencing of whole exomes represents a powerful tool in biomedical research. In this chapter, we briefly introduce whole-exome sequencing in the context of genetic approaches to identify host susceptibility genes to viral infections. We then describe general aspects of the workflow for whole-exome sequence analysis together with the tools and online resources that can be used to identify and annotate variant calls, and then prioritize them for their potential association to phenotypes of interest.
任何病毒感染的临床病程在个体间差异很大。这种差异源于多种病毒、宿主和环境因素。对影响个体对多种致病病毒易感性差异的宿主遗传因素的识别，极大地增进了我们对免疫所需机制和途径的理解。全外显子组的二代测序是生物医学研究中的一项强大工具。在本章中，我们在通过遗传学方法识别病毒感染宿主易感性基因的背景下，简要介绍全外显子组测序。然后，我们描述全外显子组序列分析工作流程的一般方面，以及可用于识别和注释变异位点，并根据其与感兴趣表型的潜在关联对其进行优先级排序的工具和在线资源。
