Minton Jayne A L, Flanagan Sarah E, Ellard Sian
Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Methods Mol Biol. 2011;688:143-53. doi: 10.1007/978-1-60761-947-5_10.
Advances in high-throughput sequencing techniques had presented a significant challenge to the processing capabilities of genetic laboratories. However, recent developments in the field of semi-automated mutation detection have revolutionised the task of mutation detection.This chapter provides user information for one commercially available program, Mutation Surveyor. The software is manufactured by SoftGenetics (Pennsylvania, USA) and provides an accurate and efficient program for detecting sequence variants. The chapter focuses on the methodology of setting up GenBank files as reference files and provides information on analysis parameters and data processing.
高通量测序技术的进步给基因实验室的处理能力带来了重大挑战。然而，半自动突变检测领域的最新进展彻底改变了突变检测任务。本章为一个商业可用程序Mutation Surveyor提供用户信息。该软件由SoftGenetics（美国宾夕法尼亚州）制造，提供了一个用于检测序列变异的准确且高效的程序。本章重点介绍将GenBank文件设置为参考文件的方法，并提供分析参数和数据处理方面的信息。
