Article

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

2025-05-29

Abstract excerpt

<title>Abstract</title> <p>Using data consisting of 8,316 individuals, we evaluated performance of genotype imputation 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 these panels. In Chinese samples, the TOPMed panel required an R2 threshold of...

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Literature Corpus work: 246fb412-d782-581e-8feb-f2deb32f654e
DOI: 10.21203/rs.3.rs-6440282/v1

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