Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
PLoS Comput Biol. 2012;8(12):e1002824. doi: 10.1371/journal.pcbi.1002824. Epub 2012 Dec 27.
Although there is great promise in the benefits to be obtained by analyzing cancer genomes, numerous challenges hinder different stages of the process, from the problem of sample preparation and the validation of the experimental techniques, to the interpretation of the results. This chapter specifically focuses on the technical issues associated with the bioinformatics analysis of cancer genome data. The main issues addressed are the use of database and software resources, the use of analysis workflows and the presentation of clinically relevant action items. We attempt to aid new developers in the field by describing the different stages of analysis and discussing current approaches, as well as by providing practical advice on how to access and use resources, and how to implement recommendations. Real cases from cancer genome projects are used as examples.
虽然分析癌症基因组可以带来巨大的好处，但在该过程的不同阶段，仍存在许多问题，从样本制备和实验技术验证，到结果解释，都存在问题。本章专门重点介绍与癌症基因组数据的生物信息学分析相关的技术问题。主要涉及的问题包括数据库和软件资源的使用、分析工作流程的使用以及临床相关操作项的呈现。我们试图通过描述分析的不同阶段、讨论当前的方法，并提供有关如何访问和使用资源以及如何实施建议的实用建议，来帮助该领域的新开发人员。癌症基因组项目的实际案例被用作示例。
