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Abstract

This chapter serves as a general introduction to variant calling from high-throughput sequencing data. The chapter consists of a high-level overview of variant calling, an introduction to sequence data and the various data formats used to store it, a detailed description of current variant-calling methods and some popular software tools, and a summary.

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Correspondence to Andy Rimmer .

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© 2015 Springer Science+Business Media New York

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Rimmer, A. (2015). Calling Variants from Sequence Data. In: Zeggini, E., Morris, A. (eds) Assessing Rare Variation in Complex Traits. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2824-8_2

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