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Article

High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.

Genomics, proteomics & bioinformatics - 22 Dec 2025

Yang Qingxin, Sun Yuntao, Duan Shuhan, Nie Shengjie, Liu Chao, Deng Hong, Wang Mengge, He Guanglin

Abstract excerpt

Large-scale international and regional human genomic and pangenomic resources derived from population-scale biobanks and ancient DNA sequences have provided significant insights into human evolution and the genetic determinants of complex diseases and traits. Despite these advances, challenges persist in optimizing the integration of phasing tools, merging haplotype reference panels (HRPs), developing imputation...

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PMID: 40059317
DOI: 10.1093/gpbjnl/qzaf022
PMCID: PMC13175255

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