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Article

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

Genetics, selection, evolution : GSE - 15 Nov 2024

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

Abstract excerpt

BACKGROUND: Genotype imputation is a cost-effective method for obtaining sequence genotypes for downstream analyses such as genome-wide association studies (GWAS). However, low imputation accuracy can increase the risk of false positives, so it is important to pre-filter data or at least assess the potential limitations due to imputation accuracy. In this study, we benchmarked three different imputation programs...

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PMID: 39548370
DOI: 10.1186/s12711-024-00942-2
PMCID: PMC11566673

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