title: The Qatar genome: a population-specific tool for precision medicine in the Middle East.
abstract: 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.
authors.affiliation: Sidra Medical and Research Center, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar.
authors.forename: Khalid A
authors.initials: KA
authors.lastname: Fakhro
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College , New York, NY, USA.
authors.forename: Michelle R
authors.initials: MR
authors.lastname: Staudt
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College , New York, NY, USA.
authors.forename: Monica Denise
authors.initials: MD
authors.lastname: Ramstetter
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College in Qatar , Doha, Qatar.
authors.forename: Amal
authors.initials: A
authors.lastname: Robay
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College in Qatar , Doha, Qatar.
authors.forename: Joel A
authors.initials: JA
authors.lastname: Malek
authors.affiliation: Laboratory Medicine and Pathology, Hamad Medical Corporation , Doha, Qatar.
authors.forename: Ramin
authors.initials: R
authors.lastname: Badii
authors.affiliation: Laboratory Medicine and Pathology, Hamad Medical Corporation , Doha, Qatar.
authors.forename: Ajayeb Al-Nabet
authors.initials: AA
authors.lastname: Al-Marri
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College in Qatar , Doha, Qatar.
authors.forename: Charbel
authors.initials: C
authors.lastname: Abi Khalil
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College in Qatar , Doha, Qatar.
authors.forename: Alya
authors.initials: A
authors.lastname: Al-Shakaki
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College in Qatar , Doha, Qatar.
authors.forename: Omar
authors.initials: O
authors.lastname: Chidiac
authors.affiliation: Weill Cornell Medical College in Qatar , Doha, Qatar.
authors.forename: Dora
authors.initials: D
authors.lastname: Stadler
authors.affiliation: Department of Medicine, Hamad Medical Corporation , Doha, Qatar.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Zirie
authors.affiliation: Department of Medicine, Hamad Medical Corporation , Doha, Qatar.
authors.forename: Amin
authors.initials: A
authors.lastname: Jayyousi
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College , New York, NY, USA.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Salit
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA; Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, USA.
authors.forename: Jason G
authors.initials: JG
authors.lastname: Mezey
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College , New York, NY, USA.
authors.forename: Ronald G
authors.initials: RG
authors.lastname: Crystal
authors.affiliation: Department of Genetic Medicine, Weill Cornell Medical College , New York, NY, USA.
authors.forename: Juan L
authors.initials: JL
authors.lastname: Rodriguez-Flores