A population-specific major allele reference genome from the United Arab Emirates population

Authors/Creators

Gihan Daw Elbait
Andreas Henschel
Guan K. Tay, Edith Cowan UniversityFollow
Habiba S. Al Safar

Abstract

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 and admixture components in the UAE. This baseline study was conceived to establish a high-quality reference genome and a genetic variations resource to enable the development of regional population specific initiatives and thus inform the application of population studies and precision medicine in the UAE. ST

RAS ID

38765

Document Type

Journal Article

Date of Publication

2021

Volume

12

Funding Information

Khalifa University

School

School of Medical and Health Sciences

Creative Commons License

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

Publisher

Frontiers Media S. A.

Comments

Elbait, G. D., Henschel, A., Tay, G. K., & Al Safar, H. S. (2021). A population-specific major allele reference genome from the United Arab Emirates population. Frontiers in Genetics, 12, article 660428. https://doi.org/10.3389/fgene.2021.660428

Recommended Citation

Daw Elbait, G., Henschel, A., Tay, G. K., & Al Safar, H. S. (2021). A population-specific major allele reference genome from the United Arab Emirates population. DOI: https://doi.org/10.3389/fgene.2021.660428