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A Pangenomic Approach to Improve Population Genetics Analysis and Reference Bias in Underrepresented Middle Eastern and Horn of Africa Populations.

Biomolecules - 15 Apr 2025

Oliva Adrien, Foare Rachel, Campbell Peter, Twine Natalie A, Bauer Denis C, Johar Angad Singh

Abstract excerpt

Genomics plays a crucial role in addressing health disparities, yet most studies rely on the hg38 linear reference genome, limiting the potential of pangenomic approaches, particularly for underrepresented populations. In this study, we focus on characterising East African populations, particularly Somalis, by constructing a variation graph using Mozabites from the Human Genome Diversity Project (HGDP) given...

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Identifiers

PMID: 40305331
DOI: 10.3390/biom15040582
PMCID: PMC12025191

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