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 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 dataset of variants in clinically relevant genes in the population sample of contemporary Serbia. A few variants significantly more frequent in the analyzed sample population compared to the European population as a whole are distinguished as its unique genetic determinants. We explored thoroughly their potential functional impact and its correlation with the health burden of the population of Serbia. Our variant’s catalogue improves the understanding of genetics of modern Serbia, contributes to application of precision medicine and health equity. In addition, this resource may also be applicable in neighboring regions and in worldwide functional analyses of genetic variants in individuals of European descent.