Empirical versus estimated accuracy of imputation: optimising filtering thresholds for sequence imputation

This study provides an empirically derived approach to apply customised software-specific Rsq<sub>soft</sub> thresholds for downstream analyses of imputed variants, such as needed for a meta-GWAS. The very poor empirical imputation accuracy for variants on the PAR when starting from low density genotypes demonstrates that this region should be imputed starting from a higher density of real genotypes.

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Publication Details

Journal
Genetics Selection Evolution
Published
2024-11-15
DOI
https://doi.org/10.1186/s12711-024-00942-2
Citations
12
Primary Topic
Genetic and phenotypic traits in livestock
Type
article
Field-Weighted Citation Impact
6.60

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article

Empirical versus estimated accuracy of imputation: optimising filtering thresholds for sequence imputation

Coralie M. Reich, Sunduimijid Bolormaa, Amanda J. Chamberlain, Iona M. MacLeod et al.
12 citations
Genetics Selection Evolution
Genetic and phenotypic traits in livestock
6.60
article

Empirical versus estimated accuracy of imputation: optimising filtering thresholds for sequence imputation

Coralie M. Reich, Sunduimijid Bolormaa, Amanda J. Chamberlain, Iona M. MacLeod, Hans D. Daetwyler, Christy J. Vander Jagt, Tuan V. Nguyen
article en
12 citations

Abstract

This study provides an empirically derived approach to apply customised software-specific Rsq<sub>soft</sub> thresholds for downstream analyses of imputed variants, such as needed for a meta-GWAS. The very poor empirical imputation accuracy for variants on the PAR when starting from low density genotypes demonstrates that this region should be imputed starting from a higher density of real genotypes.

Genetics Selection EvolutionVol. 56(1)
La Trobe University (AU), Agriculture Victoria (AU), AgriBio (AU)
Gardiner Foundation, Agriculture Victoria
Openalex Percentile: Top 3%
Genetic and phenotypic traits in livestock
6.60
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