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

dc.contributor.authorKars, M. Ece
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorOnat, O. Emre
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorChoi, Jungmin
dc.contributor.authorItan, Yuval
dc.contributor.authorCaglar, Caner
dc.contributor.authorPalvadeau, Robin
dc.contributor.authorCasanova, Jean-Laurent
dc.contributor.authorCooper, David N.
dc.contributor.authorStenson, Peter D.
dc.contributor.authorYavuz, Alper
dc.contributor.authorBulus, Hakan
dc.contributor.authorGunel, Murat
dc.contributor.authorFriedman, Jeffrey M.
dc.contributor.authorOzcelik, Tayfun
dc.date.accessioned2023-02-21T12:41:56Z
dc.date.available2023-02-21T12:41:56Z
dc.date.issued2021-01-01
dc.description.abstractThe 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 (n = 2,589) or whole genomes (n = 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.
dc.description.issue36
dc.description.issueSEP 7
dc.description.volume118
dc.identifier.doi10.1073/pnas.2026076118
dc.identifier.urihttps://hdl.handle.net/11443/2768
dc.identifier.urihttp://dx.doi.org/10.1073/pnas.2026076118
dc.identifier.wosWOS:000705126700022
dc.publisherNATL ACAD SCIENCES
dc.relation.ispartofPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
dc.subjectTurkish Variome
dc.subjectadmixture
dc.subjectsequencing
dc.subjectpopulation genetics
dc.subjectvariation
dc.titleThe genetic structure of the Turkish population reveals high levels of variation and admixture
dc.typeArticle

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