The Qatar genome: a population-specific tool for precision medicine in the Middle East

• Published in: Human genome variation Vol. 3; no. 1; p. 16016
• Main Authors: Fakhro, Khalid A, Staudt, Michelle R, Ramstetter, Monica Denise, Robay, Amal, Malek, Joel A, Badii, Ramin, Al-Marri, Ajayeb Al-Nabet, Khalil, Charbel Abi, Al-Shakaki, Alya, Chidiac, Omar, Stadler, Dora, Zirie, Mahmoud, Jayyousi, Amin, Salit, Jacqueline, Mezey, Jason G, Crystal, Ronald G, Rodriguez-Flores, Juan L
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 30.06.2016; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/212; 692/308/2056; Biomedical and Life Sciences; Biomedicine; Gene Expression; Gene Function; Gene Therapy; Human Genetics; Molecular Medicine
• DOI: 10.1038/hgv.2016.16
• ISSN: 2054-345X

Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), a population-specific genome for the indigenous Arab population of Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing of 1,161 Qataris, representing 0.4% of the population. A total of 20.9 million single nucleotide polymorphisms (SNPs) and 3.1 million indels were observed in Qatar, including an average of 1.79% novel variants per individual genome. Replacement of the GRCh37 standard reference with QTRG in a best practices genome analysis workflow resulted in an average of 7* deeper coverage depth (an improvement of 23%) and 756,671 fewer variants on average, a reduction of 16% that is attributed to common Qatari alleles being present in QTRG. The benefit for using QTRG varies across ancestries, a factor that should be taken into consideration when selecting an appropriate reference for analysis. Precision medicine: A reference genome for the Middle East Researchers have created a new reference genome from Qatari people to improve precision medicine and genetic disease research in the region. Juan Rodriguez-Flores of Weill Cornell Medical College led an international team that sequenced the genomes of over 1,000 Qataris and identified 26 million differences from the reference human genome. In many cases, the variant versions were more common than the reference version, so these differences were incorporated into the Qatari Genome. A reference genome which reflects the frequency of variants in a population is an important resource when studying its genetic diseases or tailoring treatments for individual patients. The team also compiled a catalog of the pathogenic variants they identified in the Qatari Genome. These new tools will facilitate the discovery of disease-causing variants and the development of customized therapies for individuals in similar populations.