IMPUTE 5 is a genotype imputation method that can scale to reference panels with millions of samples. This method continues to refine the observation made in the IMPUTE2 method, that accuracy is optimized via use of a custom subset of haplotypes when imputing each individual. It achieves fast, accurate, and memory-efficient imputation by selecting haplotypes using the Positional Burrows Wheeler Transform (PBWT). By using the PBWT data structure at genotyped markers, IMPUTE 5 identifies locally best matching haplotypes and long identical by state segments. The method then uses the selected haplotypes as conditioning states within the IMPUTE model.
If you use IMPUTE 5 in your research, please cite the following publication:
S. Rubinacci, O. Delaneau, J. Marchini (2019) Genotype imputation using the Positional Burrows Wheeler Transform
1 August (v1.0) : First public release
Software registration and license:
IMPUTE 5 is freely available for academic use only. To see rules for non-academic use see the LICENCE file (also included with each software download). Please register for access to the software here.
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