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Extending long-range phasing and haplotype library imputation methods to impute genotypes on sex chromosomes

John M Hickey12* and Andreas Kranis3

Author Affiliations

1 School of Environmental and Rural Science, University of New England, Armidale, Australia

2 Biometrics and Statistics Unit, Crop Research Informatics Lab, International Maize and Wheat Improvement Center (CIMMYT), 06600, Mexico, DF, Mexico

3 Aviagen Ltd., Newbridge, Scotland EH28 8SZ, UK

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Genetics Selection Evolution 2013, 45:10  doi:10.1186/1297-9686-45-10

Published: 25 April 2013


AlphaImpute is a flexible and accurate genotype imputation tool that was originally designed for the imputation of genotypes on autosomal chromosomes. In some species, sex chromosomes comprise a large portion of the genome. For example, chromosome Z represents approximately 8% of the chicken genome and therefore is likely to be important in determining genetic variation in a population. When breeding programs make selection decisions based on genomic information, chromosomes that are not represented on the genotyping platform will not be subject to selection. Therefore imputation algorithms should be able to impute genotypes for all chromosomes. The objective of this research was to extend AlphaImpute so that it could impute genotypes on sex chromosomes. The accuracy of imputation was assessed using different genotyping strategies in a real commercial chicken population. The correlation between true and imputed genotypes was high in all the scenarios and was 0.96 for the most favourable scenario. Overall, the accuracy of imputation of the sex chromosome was slightly lower than that of autosomes for all scenarios considered.