Short Read Mapping for Exome Sequencing

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.