Article

Imputation Disparities Driven by Recent Selection and Their Impact on Disease Risk Estimation in East and Southeast Asian Populations

2025-04-07

Abstract excerpt

<h4>Summary</h4> Using genotype data consisting of 8,316 individuals, we systematically evaluated imputation performance across six state-of-the-art reference panels for Chinese and Thai populations. A substantial proportion of variants identified through whole-genome sequencing, especially low-frequency variants, remained undetected by existing reference panels. In the Chinese population, the TOPMed panel requir...

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Literature Corpus work: b700c1a3-6f24-58fd-830c-4e7caaab7dc6
DOI: 10.1101/2025.04.03.646928

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