Document Type
Journal Article
Publication Title
Scientific Reports
ISSN
2045-2322
Volume
9
Issue
1
PubMed ID
31604968
Publisher
Nature
School
School of Medical and Health Sciences
RAS ID
31183
Funders
This study was supported by research incentive funds from Khalifa University Internal Research Fund Level 2 granted to Dr. Habiba Al Safar in 2015.
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.
DOI
10.1038/s41598-019-50876-9
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Comments
AlSafar, H. S., Al-Ali, M., Elbait, G. D., Al-Maini, M. H., Ruta, D., Peramo, B., ... & Tay, G. K. (2019). Introducing the first whole genomes of nationals from the United Arab Emirates. Scientific Reports, 9(1).
Available here.