The first insight into the genetic structure of the population of modern Serbia
Abstract The complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompasses fine-scale genetic diversity. Despite signific...
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Nature Portfolio
2021
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oai:doaj.org-article:1143f842e46d48db9e503681c2fcb86c2021-12-02T16:15:06ZThe first insight into the genetic structure of the population of modern Serbia10.1038/s41598-021-93129-42045-2322https://doaj.org/article/1143f842e46d48db9e503681c2fcb86c2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-93129-4https://doaj.org/toc/2045-2322Abstract The complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompasses fine-scale genetic diversity. Despite significant efforts in recent years, uneven representation still characterizes genomic resources and among the underrepresented European populations are the Western Balkans including the Serbian population. Our research addresses this gap and presents the first ever targeted sequencing dataset of variants in clinically relevant genes. By measuring population differentiation and applying the Principal Component and Admixture analysis we demonstrated that the Serbian population differs little from other European populations, yet we identified several novel and more frequent variants that appear as its unique genetic determinants. We explored thoroughly the functional impact of frequent variants and its correlation with the health burden of the population of Serbia based on a sample of 144 individuals. Our variants catalogue improves the understanding of genetics of modern Serbia, contributes to research on ancestry, and aids in improvements of well-being and health equity. In addition, this resource may also be applicable in neighboring regions and valuable in worldwide functional analyses of genetic variants in individuals of European descent.Tamara DrljacaBranka ZukicVladimir KovacevicBranislava GemovicKristel Klaassen-LjubicicVladimir PerovicMladen LazarevicSonja PavlovicNevena VeljkovicNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-12 (2021) |
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Medicine R Science Q Tamara Drljaca Branka Zukic Vladimir Kovacevic Branislava Gemovic Kristel Klaassen-Ljubicic Vladimir Perovic Mladen Lazarevic Sonja Pavlovic Nevena Veljkovic The first insight into the genetic structure of the population of modern Serbia |
| description |
Abstract The complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompasses fine-scale genetic diversity. Despite significant efforts in recent years, uneven representation still characterizes genomic resources and among the underrepresented European populations are the Western Balkans including the Serbian population. Our research addresses this gap and presents the first ever targeted sequencing dataset of variants in clinically relevant genes. By measuring population differentiation and applying the Principal Component and Admixture analysis we demonstrated that the Serbian population differs little from other European populations, yet we identified several novel and more frequent variants that appear as its unique genetic determinants. We explored thoroughly the functional impact of frequent variants and its correlation with the health burden of the population of Serbia based on a sample of 144 individuals. Our variants catalogue improves the understanding of genetics of modern Serbia, contributes to research on ancestry, and aids in improvements of well-being and health equity. In addition, this resource may also be applicable in neighboring regions and valuable in worldwide functional analyses of genetic variants in individuals of European descent. |
| format |
article |
| author |
Tamara Drljaca Branka Zukic Vladimir Kovacevic Branislava Gemovic Kristel Klaassen-Ljubicic Vladimir Perovic Mladen Lazarevic Sonja Pavlovic Nevena Veljkovic |
| author_facet |
Tamara Drljaca Branka Zukic Vladimir Kovacevic Branislava Gemovic Kristel Klaassen-Ljubicic Vladimir Perovic Mladen Lazarevic Sonja Pavlovic Nevena Veljkovic |
| author_sort |
Tamara Drljaca |
| title |
The first insight into the genetic structure of the population of modern Serbia |
| title_short |
The first insight into the genetic structure of the population of modern Serbia |
| title_full |
The first insight into the genetic structure of the population of modern Serbia |
| title_fullStr |
The first insight into the genetic structure of the population of modern Serbia |
| title_full_unstemmed |
The first insight into the genetic structure of the population of modern Serbia |
| title_sort |
first insight into the genetic structure of the population of modern serbia |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/1143f842e46d48db9e503681c2fcb86c |
| work_keys_str_mv |
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