Montgomery Kate T, Iartchouck Oleg, Li Li, Loomis Stephanie, Obourn Vanessa, Kucherlapati Raju
Harvard Medical School - Partners Healthcare Center for Genetics and Genomics, Boston, Massachusetts, USA.
Curr Protoc Hum Genet. 2008 Oct;Chapter 7:Unit 7.16. doi: 10.1002/0471142905.hg0716s59.
The ability to search for genetic variants that may be related to human disease is one of the most exciting consequences of the availability of the sequence of the human genome. Large cohorts of individuals exhibiting certain phenotypes can be studied and candidate genes resequenced. However, the challenge of analyzing sequence data from many individuals with accuracy, speed, and economy is great. This unit describes one set of software tools: Phred, Phrap, PolyPhred, and Consed. Coverage includes the advantages and disadvantages of these analysis tools, details for obtaining and using the software, and the results one may expect. The software is being continually updated to permit further automation of mutation analysis. Currently, however, at least some manual review is required if one wishes to identify 100% of the variants in a sample set.
搜索可能与人类疾病相关的基因变异的能力，是人类基因组序列可得所带来的最令人兴奋的成果之一。可以对表现出特定表型的大量个体队列进行研究，并对候选基因进行重测序。然而，要准确、快速且经济地分析来自众多个体的序列数据，挑战巨大。本单元介绍了一组软件工具：Phred、Phrap、PolyPhred和Consed。内容涵盖这些分析工具的优缺点、获取和使用该软件的详细信息，以及可能得到的结果。该软件正在不断更新，以实现突变分析的进一步自动化。然而目前，如果想要识别样本集中100%的变异，至少仍需要进行一些人工检查。
