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

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.

Comments

Originally published as: 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).

Original article available here.

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

Access Rights

free_to_read

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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