Mutation Surveyor: An In Silico Tool for Sequencing Analysis

DNA sequencing is widely used for DNA diagnostics and functional studies of genes of interest. With significantly increased sequencing outputs, manual reading of sequence results can impede an efficient and accurate analysis. Mutation Surveyor is a useful in silico tool developed by SoftGenetics that assists the detection of sequence variations within Sanger sequencing traces. This tool can process up to 400 lanes of data at a time with high accuracy and sensitivity. It can effectively detect SNPs and indels in their homozygous or heterozygous states as well as mosaicism. In this chapter, we describe the general application of Mutation Surveyor for DNA sequencing analysis and its unique features.