A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population.
| Autor: | Daw Elbait G; Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates., Henschel A; Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; Department of Electrical Engineering and Computer Science, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates., Tay GK; Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; Division of Psychiatry, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, WA, Australia.; School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, Australia., Al Safar HS; Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; Department of Genetics and Molecular Biology, College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in genetics [Front Genet] 2021 Apr 23; Vol. 12, pp. 660428. Date of Electronic Publication: 2021 Apr 23 (Print Publication: 2021). |
| DOI: | 10.3389/fgene.2021.660428 |
| Abstrakt: | The ethnic composition of the population of a country contributes to the uniqueness of each national DNA sequencing project and, ideally, individual reference genomes are required to reduce the confounding nature of ethnic bias. This work represents a representative Whole Genome Sequencing effort of an understudied population. Specifically, high coverage consensus sequences from 120 whole genomes and 33 whole exomes were used to construct the first ever population specific major allele reference genome for the United Arab Emirates (UAE). When this was applied and compared to the archetype hg19 reference, assembly of local Emirati genomes was reduced by ∼19% (i.e., some 1 million fewer calls). In compiling the United Arab Emirates Reference Genome (UAERG), sets of annotated 23,038,090 short (novel: 1,790,171) and 137,713 structural (novel: 8,462) variants; their allele frequencies (AFs) and distribution across the genome were identified. Population-specific genetic characteristics including loss-of-function variants, admixture, and ancestral haplogroup distribution were identified and reported here. We also detect a strong correlation between F Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2021 Daw Elbait, Henschel, Tay and Al Safar.) |
| Databáze: | MEDLINE |
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