Mutation Surveyor: Software for DNA Sequence Analysis

Abstract

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.