An Emirati pangenome incorporating a diploid telomere-to-telomere reference

Reference data on genomic variation forms the basis of genetics research. Limitations in identifying genetic variation from single reference sequences have recently been addressed through improvements in sequencing technologies, allowing the generation of pangenomic references from multiple accurate chromosome-level de novo assemblies. Nevertheless, global pangenomes to date have yet to include genomes from the populations of the Middle Eastern Region. To address this shortcoming, this study provides an Emirati genome reference. Its core is a diploid assembly with a Quality Value (QV) of 60 that includes ten telomere-to-telomere chromosomes. This assembly is incorporated into a pangenome graph constructed of 52 additional high-quality assemblies, half of which are trio-based. This Emirati pangenome reveals a similar level of genomic variation as the one compiled by the Human Pangenome Reference Consortium, underscoring its utility for the identification of both global and population-centered genomic variation, even in genome regions that have been traditionally challenging to assemble but are covered by the Emirati telomere-to-telomere assembly. As such, the Emirati genome reference significantly contributes to genomic research globally and is an essential resource for genomics-based personalized medicine in the United Arab Emirates and other parts of the Middle East.