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Reference for the Region

Researchers from Weill Cornell Medical College — both in New York City and Doha, Qatar — have generated a reference genome for people from the Middle East and North Africa.

As the team led by Weill Cornell's Juan Rodriguez-Flores reports in Human Genome Variation, they sequenced the whole genomes of 108 people and the exomes of 1,268 people living in Qatar, including 215 non-Qatari people from the Middle East and North Africa or South Asia. For the Qatari individuals, Rodriguez-Flores and his colleagues characterized their ancestry, which they compared to the non-Qatari subset of their cohort and public genomic databases, to uncover contributions from European, South Asian, Bedouin, Persian, and sub-Saharan African populations.

In their Qatari cohort, the researchers uncovered an average of 4 million SNPs per genome and some 15,000 SNPs per exome, or a total of more than 20 million SNPs. To construct the Qatari reference genome, the researchers determined the allele frequency for each SNP, finding that some of these SNPs were actually common in the Qatari population.

When the researchers used the reference Qatari Genome they developed rather than the standard GRCh37 reference in a best practices genome analysis workflow, they reported a deeper average coverage and an average 756,671 fewer variants.

This region-specific reference genome, Nature Middle East notes, will bolster precision medicine in Middle Eastern populations.

"Precise genome interpretation is key to the successful integration of genomics in healthcare decision-making," first author Khalid Fakhro from Weill Cornell Qatar tells Nature Middle East.