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外显子组测序的短读长比对

Short read mapping for exome sequencing.

作者信息

Zhou Xueya, Bao Suying, Wang Binbin, Zhang Xuegong, Song You-Qiang

机构信息

Bioinformatics Division, Tsinghua National Laboratory of Information Science and Technology, Beijing, China.

出版信息

Methods Mol Biol. 2013;1038:93-111. doi: 10.1007/978-1-62703-514-9_6.

Abstract

Mapping short reads to the reference genome is very often the prerequisite for applications utilizing the next-generation sequencing technologies. A dozen of software tools developed for this purpose have been widely used. But many practical issues remained when utilizing them to build a computational pipeline for downstream analyses. In this chapter, we describe the read mapping procedures adopted in our lab for the exome sequencing studies as an example to illustrate those practical details.

摘要

将短读长序列比对到参考基因组通常是利用下一代测序技术进行应用的前提条件。为此目的开发的十几种软件工具已被广泛使用。但是,在使用它们构建用于下游分析的计算流程时,仍存在许多实际问题。在本章中,我们将以我们实验室在全外显子组测序研究中采用的读长比对程序为例,来说明这些实际细节。

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