Introducing the first whole genomes of nationals from the United Arab Emirates

Abstract

Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined with mapping human reference genomes of underrepresented populations has improved the understanding of human diversity and disease associations. In this study, for the first time, whole genome sequences of two nationals of the United Arab Emirates (UAE) at >27X coverage are reported. The two Emirati individuals were predominantly of Central/South Asian ancestry. An in-house customized pipeline using BWA, Picard followed by the GATK tools to map the raw data from whole genome sequences of both individuals was used. A total of 3,994,521 variants (3,350,574 Single Nucleotide Polymorphisms (SNPs) and 643,947 indels) were identified for the first individual, the UAE S001 sample. A similar number of variants, 4,031,580 (3,373,501 SNPs and 658,079 indels), were identified for UAE S002. Variants that are associated with diabetes, hypertension, increased cholesterol levels, and obesity were also identified in these individuals. These Whole Genome Sequences has provided a starting point for constructing a UAE reference panel which will lead to improvements in the delivery of precision medicine, quality of life for affected individuals and a reduction in healthcare costs. The information compiled will likely lead to the identification of target genes that could potentially lead to the development of novel therapeutic modalities.

Genetic Diversity and Low Stratification of the Population of the United Arab Emirates

“…This study was commissioned since all genomes matter, irrespective of ethnic background. No whole genome sequencing (WGS) datasets in the public domain to date are from the people of the United Arab Emirates (UAE), except for (AlSafar et al, 2019). There are notable sequencing efforts in the region from Qatar (Omberg et al, 2012;Fakhro et al, 2016) and Kuwait (Alsmadi et al, 2013(Alsmadi et al, , 2014John et al, 2015;Thareja et al, 2015).…”

Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates

“…The population analysis in Tay et al (2020) described the genetic landscape of the UAE population using an informative tool and strategy for selecting subpopulation representatives in terms of admixture and subpopulation centrality. In contrast to the first two Emirati genomes in AlSafar et al (2019), where they were chosen from samples of similar ethnic admixture for the sake of comparability, the genomes of this study are a more adequate representation of the diversity and different admixture in the UAE population, a point that needs to be considered in future anthropological and medical applications.…”

“…Saliva sample collection, DNA extraction and library preparation for the four subjects were performed using methods that support whole genome sequencing on an Illumina platform. The protocols were described in AlSafar et al (2019) .…”

“…Comprehensive knowledge of genetic variation for entire populations is essential to improve our understanding of the medical relevance and for functional interpretation of DNA sequence changes. Since the inception of the 1,000 Genomes project ( Genomes Project Consortium et al, 2010 ), a deluge of genome sequencing projects ( Bentley et al, 2008 ; Kim et al, 2009 ; Fujimoto et al, 2010 ; Alabdulkareem et al, 2015 ; John et al, 2015 ; Thareja et al, 2015 ; Almal et al, 2019 ; AlSafar et al, 2019 ) have been initiated to identify the genetic variations among different human subpopulations.…”

“…Regional efforts in Qatar ( Omberg et al, 2012 ; Fakhro et al, 2016 ) and Kuwait ( Alsmadi et al, 2014 ; John et al, 2015 ; Thareja et al, 2015 ) have provided an initial genetic perspective but there are arguably differences in ethnic composition arising from differences in geographical location and tribal structures, which warrants a thorough population stratification analysis of the UAE. Recently, the first whole genome sequences (WGS) of Emirati nationals was reported in AlSafar et al (2019) from two samples both with mainly Middle Eastern and Central South Asian ethnic components.…”