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Genotype Calling for the Affymetrix Platform

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Statistical Human Genetics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 850))

Abstract

The analysis of high-throughput genotyping data in genome-wide association (GWA) studies has become a standard approach in genetic epidemiology. Data of high quality are crucial for the success of these studies. The first step in the statistical analysis is the generation of genotypes from signal intensities, and several approaches have been proposed for obtaining as accurate genotypes as possible. For the Affymetrix Genome-Wide Human SNP Array 6.0, the genotype calling algorithms Birdseed and CRLMM are commonly used in applications. After a brief description of the statistical methods for both algorithms, their usage is described in detail. Links are provided to the software and to sample code for the installation and execution of the algorithms. Additionally, a suggestion for processing the result files is made.

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Acknowledgments

The work presented in this chapter was funded by the German Ministry of Education and Research (grant: 01EZ0874) and the German Research Foundation (grant: ZI 591/17-1).

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Correspondence to Arne Schillert .

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Schillert, A., Ziegler, A. (2012). Genotype Calling for the Affymetrix Platform. In: Elston, R., Satagopan, J., Sun, S. (eds) Statistical Human Genetics. Methods in Molecular Biology, vol 850. Humana Press. https://doi.org/10.1007/978-1-61779-555-8_28

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  • DOI: https://doi.org/10.1007/978-1-61779-555-8_28

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61779-554-1

  • Online ISBN: 978-1-61779-555-8

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