As DNA sequencing becomes more affordable and data ‘tsunami’ is practically here, it is clear that the inforamtics and analysis are the rate-limiting step currently for scientific discoveries as well as medical actions in the genomics enterprise. In this chapter, soon after the brief historical overview on the genomics field, we describe details on alignment and variation analysis algorithms and software packages. Remaining challenges and potential directions are discussed at the end of the chapter.
CITATION STYLE
Yu, F., & Coarfa, C. (2013). Sequence alignment, analysis, and bioinformatic pipelines. In Next Generation Sequencing: Translation to Clinical Diagnostics (pp. 59–77). Springer New York. https://doi.org/10.1007/978-1-4614-7001-4_4
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