Abstract
Genotype imputation is a cost-effective way to increase the power of genomic selection or genome-wide association studies. While several genotype imputation algorithms are available, this chapter focuses on a heuristic algorithm, as implemented in the AlphaImpute software. This algorithm combines long-range phasing, haplotype library imputation, and segregation analysis and it is specifically designed to work with pedigreed populations.
The chapter is organized in different sections. First the challenges related to genotype imputation in pedigreed populations are described, along with the specifics of the imputation algorithm used in AlphaImpute. In the second section, factors affecting the accuracy of genotype imputation using this algorithm are discussed. The different parameters that control AlphaImpute are detailed and examples of how to apply AlphaImpute are given.
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Browning SR, Browning BL (2007) Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet 81:1084–1097
Howie BN, Donnelly P, Marchini J (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5:e1000529
Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34(8):816–834
Druet T, Georges M (2010) A hidden Markov model combining linkage and linkage disequilibrium information for haplotype reconstruction and quantitative trait locus fine mapping. Genetics 184:789–798
Habier D, Fernando RL, Garrick DJ (2010) A combined strategy to infer high-density SNP haplotypes in large pedigrees. Proceedings of the 9th World Congress on genetics applied to livestock production, Leipzig, 1–6 August 2010. pdf 09–15
Daetwyler HD, Wiggans GR, Hayes BJ, Woolliams JA, Goddard ME (2011) Imputation of missing genotypes from sparse to high density using long-range phasing. Genetics 189:317–327
VanRaden PM, O’Connell JR, Wiggans GR, Weigel KA (2011) Genomic evaluations with many more genotypes. Genet Sel Evol 243:10
Hickey JM, Kinghorn BP, Tier B, van der Werf JHJ, Cleveland MA (2012) A phasing and imputation method for pedigreed populations that results in a single-stage genomic evaluation. Genet Sel Evol 44:9
Scheet P, Stephens M (2006) A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 78:629–644
Sargolzaei M, Chesnais JP, Schenkel F (2011) FImpute—an efficient imputation algorithm for dairy cattle populations. J Dairy Sci 94(1 (E-Suppl 1)):421, Abstract
Zhang Z, Druet T (2010) Marker imputation with low-density marker panels in Dutch Holstein cattle. J Dairy Sci 93:5487–5494
Huang Y, Hickey JM, Cleveland MA, Maltecca C (2012) Assessment of alternative genotyping strategies to maximize imputation accuracy at minimal cost. Genet Sel Evol 44:25
Kerr RJ, Kinghorn BP (1996) An efficient algorithm for segregation analysis in large populations. J Anim Breed Genet 113:457–469
Hickey JM, Kinghorn BP, Tier B, Wilson JF, Dunstan N, van der Werf JHJ (2011) A combined long-range phasing and long haplotype imputation method to impute phase for SNP genotypes. Genet Sel Evol 43:12
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Hickey, J.M., Cleveland, M.A., Maltecca, C., Gorjanc, G., Gredler, B., Kranis, A. (2013). Genotype Imputation to Increase Sample Size in Pedigreed Populations. In: Gondro, C., van der Werf, J., Hayes, B. (eds) Genome-Wide Association Studies and Genomic Prediction. Methods in Molecular Biology, vol 1019. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-447-0_17
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DOI: https://doi.org/10.1007/978-1-62703-447-0_17
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Publisher Name: Humana Press, Totowa, NJ
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