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

Publication TypeJournal Article
Year of Publication2016
AuthorsFakhro KA, Staudt MR, Ramstetter MDenise, Robay A, Malek JA, Badii R, Al-Marri AAl-Nabet, Khalil CAbi, Al-Shakaki A, Chidiac O, Stadler D, Zirie M, Jayyousi A, Salit J, Mezey JG, Crystal RG, Rodriguez-Flores JL
JournalHum Genome Var
Date Published2016

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.

Alternate JournalHum Genome Var
PubMed ID27408750
PubMed Central IDPMC4927697