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A draft UAE-based Arab pangenome reference.

Nasna Nassir1,2, Mohamed A Almarri2,3, Muhammad Kumail1

  • 1Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.

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|July 24, 2025
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Summary
This summary is machine-generated.

This study introduces the Arab Pangenome Reference (UPR), a vital resource for understanding human genetic diversity. It reveals novel sequences and population-specific variants in Arab populations, enhancing genomic medicine.

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Area of Science:

  • Genomics
  • Population Genetics

Background:

  • Human pangenomes lack representation from Arab populations, limiting understanding of genetic diversity.
  • Existing reference genomes do not fully capture the genetic landscape of diverse ethnic groups.

Purpose of the Study:

  • To establish a preliminary UAE-based Arab Pangenome Reference (UPR).
  • To characterize novel genetic sequences and variants within Arab populations.
  • To improve genomic medicine and research for underrepresented groups.

Main Methods:

  • Assembly of nuclear and mitochondrial pangenomes using high-fidelity, ultralong, and Hi-C reads.
  • High-quality haplotype-phased de novo assembly yielding an average N50 of 124.28 Mb.
  • Comparative analysis against existing human pangenomes and public datasets.

Main Results:

  • Discovery of 111.96 million base pairs of novel euchromatic sequences.
  • Identification of 8.94 million population-specific small variants and 235,195 structural variants.
  • Detection of 883 gene duplications, including a unique duplication of TAF11L5, impacting genes associated with recessive diseases.
  • Uncovering 1,436 bp of previously unreported mitochondrial sequences.

Conclusions:

  • The UPR is a significant resource for Arab population genetics and genomic medicine.
  • This study highlights substantial novel genetic diversity previously missing from human references.
  • The findings pave the way for more inclusive and accurate genomic research.