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Article

Evaluation of imputation performance of multiple reference panels in a Pakistani population.

HGG advances - 10 Apr 2025

Xu Jiayi, Liu Dongjing, Hassan Arsalan, Genovese Giulio, Cote Alanna C, Fennessy Brian, Cheng Esther, Charney Alexander W, Knowles James A, Ayub Muhammad, Peterson Roseann E, Bigdeli Tim B, Huckins Laura M

Abstract excerpt

Genotype imputation is crucial for genome-wide association studies (GWASs), but reference panels and existing benchmarking studies prioritize European individuals. Consequently, it is unclear which publicly available reference panel should be used for Pakistani individuals, and whether ancestry composition or sample size of the panel matters more for imputation accuracy. Our study compared different reference...

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Identifiers

PMID: 39696820
DOI: 10.1016/j.xhgg.2024.100395
PMCID: PMC11759560

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