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

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 dive...

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Autores principales: AlSafar, Habiba S., Al-Ali, Mariam, Elbait, Gihan Daw, Al-Maini, Mustafa H., Ruta, Dymitr, Peramo, Braulio, Henschel, Andreas, Tay, Guan K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789106/
https://www.ncbi.nlm.nih.gov/pubmed/31604968
http://dx.doi.org/10.1038/s41598-019-50876-9
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author AlSafar, Habiba S.
Al-Ali, Mariam
Elbait, Gihan Daw
Al-Maini, Mustafa H.
Ruta, Dymitr
Peramo, Braulio
Henschel, Andreas
Tay, Guan K.
author_facet AlSafar, Habiba S.
Al-Ali, Mariam
Elbait, Gihan Daw
Al-Maini, Mustafa H.
Ruta, Dymitr
Peramo, Braulio
Henschel, Andreas
Tay, Guan K.
author_sort AlSafar, Habiba S.
collection PubMed
description 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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spelling pubmed-67891062019-10-17 Introducing the first whole genomes of nationals from the United Arab Emirates AlSafar, Habiba S. Al-Ali, Mariam Elbait, Gihan Daw Al-Maini, Mustafa H. Ruta, Dymitr Peramo, Braulio Henschel, Andreas Tay, Guan K. Sci Rep Article 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. Nature Publishing Group UK 2019-10-11 /pmc/articles/PMC6789106/ /pubmed/31604968 http://dx.doi.org/10.1038/s41598-019-50876-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
AlSafar, Habiba S.
Al-Ali, Mariam
Elbait, Gihan Daw
Al-Maini, Mustafa H.
Ruta, Dymitr
Peramo, Braulio
Henschel, Andreas
Tay, Guan K.
Introducing the first whole genomes of nationals from the United Arab Emirates
title Introducing the first whole genomes of nationals from the United Arab Emirates
title_full Introducing the first whole genomes of nationals from the United Arab Emirates
title_fullStr Introducing the first whole genomes of nationals from the United Arab Emirates
title_full_unstemmed Introducing the first whole genomes of nationals from the United Arab Emirates
title_short Introducing the first whole genomes of nationals from the United Arab Emirates
title_sort introducing the first whole genomes of nationals from the united arab emirates
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789106/
https://www.ncbi.nlm.nih.gov/pubmed/31604968
http://dx.doi.org/10.1038/s41598-019-50876-9
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