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

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作者
Habiba S. AlSafar
Mariam Al-Ali
Gihan Daw Elbait
Mustafa H. Al-Maini
Dymitr Ruta
Braulio Peramo
Andreas Henschel
Guan K. Tay
机构
[1] Khalifa University of Science and Technology,Center of Biotechnology
[2] Khalifa University of Science and Technology,Department of Biomedical Engineering
[3] Khalifa University of Science and Technology,College of Medicine and Health Sciences
[4] Mafraq Hospital,Department of Computer Science
[5] Etisalat-British Telecom Innovation Center,School of Psychiatry and Clinical Neurosciences
[6] Al Ain Fertility Center,School of Medical and Health Sciences
[7] Khalifa University of Science and Technology,undefined
[8] University of Western Australia,undefined
[9] Edith Cowan University,undefined
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摘要
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.
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