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Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance.

Genes - 4 Feb 2023

Dekeyser Thibault, Génin Emmanuelle, Herzig Anthony F

Abstract excerpt

Genotype imputation is widely used to enrich genetic datasets. The operation relies on panels of known reference haplotypes, typically with whole-genome sequencing data. How to choose a reference panel has been widely studied and it is essential to have a panel that is well matched to the individuals who require missing genotype imputation. However, it is broadly accepted that such an imputation panel will have...

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PMID: 36833337
DOI: 10.3390/genes14020410
PMCID: PMC9956390

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