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Split-Read Indel and Structural Variant Calling Using PINDEL

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Copy Number Variants

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1833))

Abstract

Genetic variations are important evolutionary forces in all forms of life in nature. Accurate and efficient detection of various forms of genetic variants is crucial for understanding cell function, evolution and diseases in living organisms. In this chapter, we describe a detailed protocol that uses Pindel, a split-read algorithm, to discover indels and structural variants in a given genome, from Illumina short-read sequencing data produced from biological samples.

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Acknowledgment

The authors gratefully acknowledge the financial support from General Program of National Natural Science Foundation of China (No. 31671372, 61702406).

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Correspondence to Kai Ye .

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Ye, K., Guo, L., Yang, X., Lamijer, EW., Raine, K., Ning, Z. (2018). Split-Read Indel and Structural Variant Calling Using PINDEL . In: Bickhart, D. (eds) Copy Number Variants. Methods in Molecular Biology, vol 1833. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-8666-8_7

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  • DOI: https://doi.org/10.1007/978-1-4939-8666-8_7

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-8665-1

  • Online ISBN: 978-1-4939-8666-8

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