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.
Highlights
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
After variant calling from a dataset that included sequencing data of 147 individuals, followed by sample and variant quality control (QC) filtration, we obtained a final multisample set reduced to 144 data samples
We investigated the structure of the population of Serbia using the ADMIXTURE38 with a combined study sample and 1kGP dataset that contains all available populations i.e. Americans, South Asians, East Asians, Africans and Europeans including Toscani in Italia, Iberian population in Spain, Utah Residents with Northern and Western European Ancestry, British in England and Scotland and Finnish in Finland
Summary
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. 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 This resource may be applicable in neighboring regions and valuable in worldwide functional analyses of genetic variants in individuals of European descent. One recent exception is a report that describes the sequencing and analysis of a genome from a contemporary individual of Serbian origin and which introduces tens of thousands of previously unknown variants[26]
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