Analysis of Y-chromosome haplogroup distribution is widely used when investigating geographical clustering of different populations, which is why it plays an important role in population genetics, human migration patterns and even in forensic investigations. Individual determination of these haplogroups is mostly based on the analysis of single nucleotide polymorphism (SNP) markers located in the non-recombining part of Y-chromosome (NRY). On the other hand, the number of forensic and anthropology studies investigating short tandem repeats on the Y-chromosome (Y-STRs) increases rapidly every year. During the last few years, these markers have been successfully used as haplogroup prediction methods, which is why they have been used in this study. Previously obtained Y-STR haplotypes (23 loci) from 100 unrelated Turkish males recently settled in Sarajevo were used for the determination of haplogroups via 'Whit Athey's Haplogroup Predictor' software. The Bayesian probability of 90 of the studied haplotypes is greater than 92.2% and ranges from 51.4% to 84.3% for the remaining 10 haplotypes. A distribution of 17 different haplogroups was found, with the Y- haplogroup J2a being most prevalent, having been found in 26% of all the samples, whereas R1b, G2a and R1a were less prevalent, covering a range of 10% to 15% of all the samples. Together, these four haplogroups account for 63% of all Y-chromosomes. Eleven haplogroups (E1b1b, G1, I1, I2a, I2b, J1, J2b, L, Q, R2, and T) range from 2% to 5%, while E1b1a and N are found in 1% of all samples. Obtained results indicate that a large majority of the Turkish paternal line belongs to West Asia, Europe Caucasus, Western Europe, Northeast Europe, Middle East, Russia, Anatolia, and Black Sea Y-chromosome lineages. As the distribution of Y-chromosome haplogroups is consistent with the previously published data for the Turkish population residing in Turkey, it was concluded that the analyzed population could also be recognized as a representative sample of the Turkish population residing in Turkey.

Abstract Although DNA genetic markers, including Y-chromosomal short tandem repeats (Y-STRs), are widely used in the analysis of population data, autosomal short tandem repeats (STRs) have a wide role in the investigation of human migration patterns throughout the history, genealogical research, and population genetics. In this review, allele frequencies of 13 autosomal STR loci (D3S1358, TH01, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, and FGA) have been reviewed in 64 different worldwide populations. Allele frequency data for 13 STR loci was collected from previously published scientific papers in the journal databases for each studied population and molecular genetic diversity among the 64 sample populations was compared. Further, a worldwide phylogenetic tree and genetic distance values were created using POPTREE2 software and UPGMA method. Results confirmed that the differences among local sub-populations are much smaller than the differences among geographically separated populations. The obtained results, as the researchers had expected, were in the compliance with previously published papers with the difference that the researchers used data on populations from all over the world and thus created a more detailed phylogenetic tree. In that way, the authors offer an insight into the global phylogenetic tree created on the basis of STR allele frequencies for the first time. The goal of this manuscript is to prove the usefulness of these 13 STR markers within the analysis of the genetic distance and its correlation with “geographically-based genetic clustering” among the worldwide populations.

The advent of the era of high-throughput sequencing has brought a wealth of biological data to researchers, but the vastness of the available data has created a demand for tools that could be used to analyze it. One such type of tools are gene set analysis tools, that take a list of genes that were found to be up or down regulated during an experiment. For the sake of simplicity this review focuses solely on freely available web based tools that have been published or have undergone significant updates in the last 5 years. This review is meant to assist tool developers to better understand the needs of the end-users, and in it we look at the currently available gene list analysis tools, their strengths and weaknesses, and offer suggestions for their improvement. Key words: microarray, gene set, systems biology, enrichment, gene ontology

Autosomal short tandem repeats (STRs) are the most widely used DNA markers in forensic investigation of the population history, human migration patterns, and genealogical research. In this study, the usefulness of 13 most widely used STR loci (D3S1358, TH01, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, and FGA) was examined along with the investigation of their application in the studies of the phylogeny of human populations. We compared allele frequencies of STR loci of the populations from the Balkan Peninsula to determine the similarities and differences among them and to determine how informative they are when it comes to the human identity testing. We made UPGMA phylogenetic tree using POPTREE2 software and Nei’s table of genetic distances using MEGA5.21 software. Additionally, MDS (multidimensional scaling) plot was generated using SPSS 20.0 software. The results implied that both geographical proximity and shared history are determining the strong clustering of the populations on the Balkans. Another conclusion drawn from this overview is that the studied STR markers are highly polymorphic and thus, satisfyingly informative to be used for human identity testing and phylogenetic research. Keywords: Balkan Peninsula, autosomal STRs, phylogenetic tree, genetic distance, clustering, population study

Autosomal short tandem repeats (STRs) are the most widely used DNA markers in forensic investigation of the population history, human migration patterns, and genealogical research. In this study, the usefulness of 13 most widely used STR loci (D3S1358, TH01, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, and FGA) was examined along with the investigation of their application in the studies of the phylogeny of human populations. We compared allele frequencies of STR loci of the populations from the Balkan Peninsula to determine the similarities and differences among them and to determine how informative they are when it comes to the human identity testing. We made UPGMA phylogenetic tree using POPTREE2 software and Nei’s table of genetic distances using MEGA5.21 software. Additionally, MDS (multidimensional scaling) plot was generated using SPSS 20.0 software. The results implied that both geographical proximity and shared history are determining the strong clustering of the populations on the Balkans. Another conclusion drawn from this overview is that the studied STR markers are highly polymorphic and thus, satisfyingly informative to be used for human identity testing and phylogenetic research.