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Pangenomic Initiatives in the Middle East.

Bassam Jamalalail1, Mohammad Amiruddin Hashmi1, Mohamed A Almarri2,3

  • 11Center for Applied and Translational Genomics, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates; email: alawi.alsheikhali@dubaihealth.ae, mohammed.uddin@dubaihealth.ae.

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Summary
This summary is machine-generated.

The pangenome initiative moves beyond a single human reference to capture global diversity. Middle Eastern pangenome projects are revealing unique genetic variations crucial for precision medicine.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Population Genetics

Background:

  • The human genome reference (GRCh38) undersamples global genetic diversity.
  • Previous genomic resources have largely excluded underrepresented populations, particularly from the Middle East.
  • Advances in sequencing and bioinformatics are enabling more comprehensive genomic analyses.

Purpose of the Study:

  • To review core pangenome concepts and current initiatives.
  • To survey pangenome efforts in Middle Eastern countries.
  • To highlight the genetic architecture and implications for precision medicine in the region.

Main Methods:

  • Review of pangenome concepts and existing literature.
  • Survey of national genome programs and pangenome initiatives in the Middle East.
  • Analysis of long-read sequencing and graph-based bioinformatics for diploid assemblies.
  • Examination of population-specific genetic factors (founder effects, consanguinity, endogamy).

Main Results:

  • Pangenome initiatives are shifting focus to diploid assemblies and population haplotypes.
  • Middle Eastern pangenome efforts are identifying novel sequence and variant content absent in current references.
  • Founder effects, consanguinity, and endogamy significantly shape the region's genetic architecture, influencing runs of homozygosity and rare alleles.
  • Existing national genome programs in six countries are beginning to incorporate pangenome strategies.

Conclusions:

  • Coordinated, region-wide pangenome initiatives are essential for equitable genome references.
  • Improved mapping and variant calling for Middle Eastern haplotypes will enhance clinical interpretation.
  • Accelerating precision medicine requires comprehensive genomic data from diverse populations.