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

Whole genome sequences (WGS) of four nationals of the United Arab Emirates (UAE) at an average coverage of 33X have been completed and described. The selection of suitable subpopulation representatives was informed by a preceding comprehensive population structure analysis. Representatives were chos...

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Published inFrontiers in genetics Vol. 11; p. 681
Main Authors Daw Elbait, Gihan, Henschel, Andreas, Tay, Guan K., Al Safar, Habiba S.
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 09.07.2020
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Abstract Whole genome sequences (WGS) of four nationals of the United Arab Emirates (UAE) at an average coverage of 33X have been completed and described. The selection of suitable subpopulation representatives was informed by a preceding comprehensive population structure analysis. Representatives were chosen based on their central location within the subpopulation on a principal component analysis (PCA) and the degree to which they were admixed. Novel genomic variations among the different subgroups of the UAE population are reported here. Specifically, the WGS analysis identified 4,161,067–4,798,806 variants in the four individual samples, where approximately 80% were single nucleotide polymorphisms (SNPs) and 20% were insertions or deletions (indels). An average of 2.75% was found to be novel variants according to dbSNP (build 151). This is the first report of structural variants (SV) from WGS data from UAE nationals. There were 15,677–20,339 called SVs, of which around 13.5% were novel. The four samples shared 1,399,178 variants, each with distinct variants as follows: 1,085,524 (for the individual denoted as UAE S011), 1,228,559 (UAE S012), 791,072 (UAE S013), and 906,818 (UAE S014). These results show a previously unappreciated population diversity in the region. The synergy of WGS and genotype array data was demonstrated through variant annotation of the former using 2.3 million allele frequencies for the local population derived from the latter technology platform. This novel approach of combining breadth and depth of array and WGS technologies has guided the choice of population genetic representatives and provides complementary, regionalized allele frequency annotation to new genomes comprising millions of loci.
AbstractList Whole genome sequences (WGS) of four nationals of the United Arab Emirates (UAE) at an average coverage of 33X have been completed and described. The selection of suitable subpopulation representatives was informed by a preceding comprehensive population structure analysis. Representatives were chosen based on their central location within the subpopulation on a principal component analysis (PCA) and the degree to which they were admixed. Novel genomic variations among the different subgroups of the UAE population are reported here. Specifically, the WGS analysis identified 4,161,067–4,798,806 variants in the four individual samples, where approximately 80% were single nucleotide polymorphisms (SNPs) and 20% were insertions or deletions (indels). An average of 2.75% was found to be novel variants according to dbSNP (build 151). This is the first report of structural variants (SV) from WGS data from UAE nationals. There were 15,677–20,339 called SVs, of which around 13.5% were novel. The four samples shared 1,399,178 variants, each with distinct variants as follows: 1,085,524 (for the individual denoted as UAE S011), 1,228,559 (UAE S012), 791,072 (UAE S013), and 906,818 (UAE S014). These results show a previously unappreciated population diversity in the region. The synergy of WGS and genotype array data was demonstrated through variant annotation of the former using 2.3 million allele frequencies for the local population derived from the latter technology platform. This novel approach of combining breadth and depth of array and WGS technologies has guided the choice of population genetic representatives and provides complementary, regionalized allele frequency annotation to new genomes comprising millions of loci.
Author Henschel, Andreas
Al Safar, Habiba S.
Tay, Guan K.
Daw Elbait, Gihan
AuthorAffiliation 2 Department of Computer Science, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
5 School of Medical and Health Sciences, Edith Cowan University , Joondalup, WA , Australia
6 Department of Genetics and Molecular Biology, Collage of Medicine and Health Sciences, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
3 Department of Biomedical Engineering, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
1 Center for Biotechnology, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
4 Division of Psychiatry, Faculty of Health and Medical Sciences, The University of Western Australia , Crawley, WA , Australia
AuthorAffiliation_xml – name: 1 Center for Biotechnology, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
– name: 5 School of Medical and Health Sciences, Edith Cowan University , Joondalup, WA , Australia
– name: 2 Department of Computer Science, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
– name: 4 Division of Psychiatry, Faculty of Health and Medical Sciences, The University of Western Australia , Crawley, WA , Australia
– name: 6 Department of Genetics and Molecular Biology, Collage of Medicine and Health Sciences, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
– name: 3 Department of Biomedical Engineering, Khalifa University of Science and Technology , Abu Dhabi , United Arab Emirates
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This article was submitted to Evolutionary and Population Genetics, a section of the journal Frontiers in Genetics
These authors share first authorship
Edited by: TingFung Chan, The Chinese University of Hong Kong, China
Reviewed by: Magdalena Gayà-Vidal, University of Porto, Portugal; Andrés Pérez-Figueroa, University of Porto, Portugal
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Snippet Whole genome sequences (WGS) of four nationals of the United Arab Emirates (UAE) at an average coverage of 33X have been completed and described. The selection...
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SubjectTerms Genetics
next generation sequence analysis
population admixture
population-specific allele frequencies
United Arab Emirates
whole genome sequencing
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Title Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates
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Volume 11
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