Serap Gonen, Valentin Wimmer, R. Chris Gaynor, Ed Byrne, Gregor Gorjanc, John M. Hickey

Theoretical and Applied Genetics; November 2018, Volume 131, Issue 11, pp 2345–2357

Abstract

Key message New fast and accurate method for phasing and imputation of SNP chip genotypes within diploid bi-parental plant populations.

Abstract

This paper presents a new heuristic method for phasing and imputation of genomic data in diploid plant species. Our method, called AlphaPlantImpute, explicitly leverages features of plant breeding programmes to maximise the accuracy of imputation. The features are a small number of parents, which can be inbred and usually have high-density genomic data, and few recombinations separating parents and focal individuals genotyped at low density (i.e. descendants that are the imputation targets). AlphaPlantImpute works roughly in three steps. First, it identifies informative low-density genotype markers in parents. Second, it tracks the inheritance of parental alleles and haplotypes to focal individuals at informative markers. Finally, it uses this low-density information as anchor points to impute focal individuals to high density. We tested the imputation accuracy of AlphaPlantImpute in simulated bi-parental populations across different scenarios. We also compared its accuracy to existing software called PlantImpute. In general, AlphaPlantImpute had better or equal imputation accuracy as PlantImpute. The computational time and memory requirements of AlphaPlantImpute were tiny compared to PlantImpute. For example, accuracy of imputation was 0.96 for a scenario where both parents were inbred and genotyped at 25,000 markers per chromosome and a focal F₂ individual was genotyped with 50 markers per chromosome. The maximum memory requirement for this scenario was 0.08 GB and took 37 s to complete.

See https://link.springer.com/article/10.1007/s00122-018-3156-9

Figure 1: Schematic of heuristic algorithm of AlphaPlantImpute.