GenomeArc, a genomic interpretation software company based in Mississauga, proudly announces its contribution to a landmark achievement in global genomics. Researchers at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), Dubai Health, have published the first Arab human pangenome in Nature Communications, constructed using long-read sequencing technologies, including PacBio’s HiFi platform. The study assembled high-quality genomes from 53 individuals representing diverse Arab populations across eight countries, revealing over 111 million base pair of new human DNA that was not part of the human genome references (hg38, chm13) or the pangenome references (HPRC or CPC). This also reported over eight million novel small variants and 235,000 structural variants (SVs) unique to the Arab population.

GenomeArc Horizon played a critical role in interpreting these newly uncovered genomic regions, particularly 1.70% of unique duplicated genes were annotated by GenomeArc Horizon as pan-ethnic disease genes associated with severe phenotypes. By leveraging Horizon’s multi-OMICs variant annotation and visualization engine, researchers were able to resolve a large number of variants of uncertain significance (VUS) and gain functional insights into duplicated genes and structural rearrangements many of which are relevant to recessive and rare diseases prevalent in the region. The software enabled scalable analysis of this complex data, accelerating clinical-grade variant interpretation across population-specific haplotypes.

This pioneering pangenome reference the UAE Arab Pangenome Reference (UPR) marks a major step toward improving representation in precision medicine. It is now publicly available to support future studies on genetic disorders, disease susceptibility, and population health. The integration of GenomeArc Horizon with the UPR is expected to significantly improve variant detection accuracy in Arab genomes, helping clinicians and researchers deliver more equitable and informed genomic care.