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The genetic structure of the Turkish population reveals high levels of variation and admixture

Kars, M Ece ; Başak, A Nazlı ; Onat, O Emre ; Bilguvar, Kaya ; Choi, Jungmin ; Itan, Yuval ; Çağlar, Caner ; Palvadeau, Robin ; Casanova, Jean-Laurent ; Cooper, David N ; Stenson, Peter D ; Yavuz, Alper ; Buluş, Hakan ; Günel, Murat ; Friedman, Jeffrey M ; Özçelik, Tayfun

Proceedings of the National Academy of Sciences - PNAS, 2021-09, Vol.118 (36) [Periódico revisado por pares]

United States: National Academy of Sciences

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Título:
The genetic structure of the Turkish population reveals high levels of variation and admixture
Autor: Kars, M Ece ; Başak, A Nazlı ; Onat, O Emre ; Bilguvar, Kaya ; Choi, Jungmin ; Itan, Yuval ; Çağlar, Caner ; Palvadeau, Robin ; Casanova, Jean-Laurent ; Cooper, David N ; Stenson, Peter D ; Yavuz, Alper ; Buluş, Hakan ; Günel, Murat ; Friedman, Jeffrey M ; Özçelik, Tayfun
Assuntos: Alleles ; Biological Sciences ; Consanguinity ; Exome ; Gene frequency ; Gene Frequency - genetics ; Genetic Drift ; Genetic relationship ; Genetic structure ; Genetic Variation - genetics ; Genetics, Population - methods ; Genome, Human - genetics ; Genome-wide association studies ; Genome-Wide Association Study - methods ; Genomes ; Genotype ; Genotypes ; Haplotypes ; Haplotypes - genetics ; Hereditary diseases ; Homozygosity ; Human Migration - trends ; Humans ; Inbreeding ; Mutation ; Phenotypes ; Population ; Population genetics ; Populations ; Turkey - ethnology ; Whole Exome Sequencing - methods
É parte de: Proceedings of the National Academy of Sciences - PNAS, 2021-09, Vol.118 (36)
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Edited by Mary-Claire King, University of Washington, Seattle, WA, and approved July 13, 2021 (received for review December 18, 2020)
2Present address: Beykoz Institute of Life Sciences and Biotechnology, Bezmialem Vakif University, 34820 Istanbul, Turkey.
1Present address: Department of Genome Studies, Institute of Health Sciences, Acıbadem Mehmet Ali Aydınlar University, 34752 Istanbul, Turkey.
Author contributions: M.E.K., J.M.F., and T.Ö. designed research; M.E.K., A.N.B., O.E.O., K.B., J.C., Y.I., C.Ç., R.P., and T.Ö. performed research; A.N.B., K.B., Y.I., J.-L.C., D.N.C., P.D.S., A.Y., H.B., and M.G. contributed new reagents/analytic tools; M.E.K. analyzed data; and M.E.K., J.M.F., and T.Ö. wrote the paper.
Descrição: The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated subjects whose whole exomes ( = 2,589) or whole genomes ( = 773) were sequenced to generate a Turkish (TR) Variome that should serve to facilitate disease gene discovery in Turkey. Consistent with the history of present-day Turkey as a crossroads between Europe and Asia, we found extensive admixture between Balkan, Caucasus, Middle Eastern, and European populations with a closer genetic relationship of the TR population to Europeans than hitherto appreciated. We determined that 50% of TR individuals had high inbreeding coefficients (≥0.0156) with runs of homozygosity longer than 4 Mb being found exclusively in the TR population when compared to 1000 Genomes Project populations. We also found that 28% of exome and 49% of genome variants in the very rare range (allele frequency < 0.005) are unique to the modern TR population. We annotated these variants based on their functional consequences to establish a TR Variome containing alleles of potential medical relevance, a repository of homozygous loss-of-function variants and a TR reference panel for genotype imputation using high-quality haplotypes, to facilitate genome-wide association studies. In addition to providing information on the genetic structure of the modern TR population, these data provide an invaluable resource for future studies to identify variants that are associated with specific phenotypes as well as establishing the phenotypic consequences of mutations in specific genes.
Editor: United States: National Academy of Sciences
Idioma: Inglês

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The genetic structure of the Turkish population reveals high levels of variation and admixture

Kars, M Ece ; Başak, A Nazlı ; Onat, O Emre ; Bilguvar, Kaya ; Choi, Jungmin ; Itan, Yuval ; Çağlar, Caner ; Palvadeau, Robin ; Casanova, Jean-Laurent ; Cooper, David N ; Stenson, Peter D ; Yavuz, Alper ; Buluş, Hakan ; Günel, Murat ; Friedman, Jeffrey M ; Özçelik, Tayfun

United States: National Academy of Sciences

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