突变检测软件：一种用于序列分析的计算机模拟工具。

Mutation surveyor: an in silico tool for sequencing analysis.

作者信息

Dong Chongmei, Yu Bing

机构信息

Plant Breeding Institute, The University of Sydney, Cobbitty, NSW, Australia.

出版信息

Methods Mol Biol. 2011;760:223-37. doi: 10.1007/978-1-61779-176-5_14.

DOI:10.1007/978-1-61779-176-5_14

PMID:21780000

Abstract

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.

摘要

DNA测序广泛应用于DNA诊断和感兴趣基因的功能研究。随着测序产量的显著增加，人工读取序列结果会妨碍高效准确的分析。Mutation Surveyor是SoftGenetics开发的一种有用的计算机工具，可协助检测桑格测序图谱中的序列变异。该工具一次可处理多达400个泳道的数据，具有高精度和高灵敏度。它可以有效检测纯合或杂合状态的单核苷酸多态性（SNP）和插入缺失（indel）以及嵌合体。在本章中，我们描述了Mutation Surveyor在DNA测序分析中的一般应用及其独特特征。