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Article

Comprehensive Evaluation of Genotype Imputation Tools for Ultra-low-depth Whole-Genome Sequencing Data.

Journal of visualized experiments : JoVE - 12 Dec 2025

Lin Ying, Li Linxuan, Zeng Jingyu, Zhao Rongkang, Jin Xin, Zhu Huanhuan

Abstract excerpt

Ultra-low-depth sequencing (ULDS) is a cost-effective strategy for large-scale genomic studies, but its utility hinges on accurate genotype imputation. This study evaluates three imputation tools -- STITCH, QUILT2, and GLIMPSE2 -- across varying sequencing depths and sample sizes, using the China Kadoorie Biobank (CKB) and The 1000 Genomes Project (1KGP) East Asian (EAS) reference panels. Critical performance...

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PMID: 41460735
DOI: 10.3791/68879

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CKB

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