TY  - JOUR
AU  - Kloska, Anna
AU  - Giełczyk, Agata
AU  - Grzybowski, Tomasz
AU  - Płoski, Rafał
AU  - Kloska, Sylwester M.
AU  - Marciniak, Tomasz
AU  - Pałczyński, Krzysztof
AU  - Rogalla-Ładniak, Urszula
AU  - Malyarchuk, Boris A.
AU  - Derenko, Miroslava V.
AU  - Kovačević-Grujičić, Nataša
AU  - Stevanović, Milena
AU  - Drakulić, Danijela
AU  - Davidović, Slobodan
AU  - Spólnicka, Magdalena
AU  - Zubańska, Magdalena
AU  - Woźniak, Marcin
PY  - 2023
UR  - https://www.mdpi.com/1422-0067/24/20/15095
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2171
AB  - Data obtained with the use of massive parallel sequencing (MPS) can be valuable in population genetics studies. In particular, such data harbor the potential for distinguishing samples from different populations, especially from those coming from adjacent populations of common origin. Machine learning (ML) techniques seem to be especially well suited for analyzing large datasets obtained using MPS. The Slavic populations constitute about a third of the population of Europe and inhabit a large area of the continent, while being relatively closely related in population genetics terms. In this proof-of-concept study, various ML techniques were used to classify DNA samples from Slavic and non-Slavic individuals. The primary objective of this study was to empirically evaluate the feasibility of discerning the genetic provenance of individuals of Slavic descent who exhibit genetic similarity, with the overarching goal of categorizing DNA specimens derived from diverse Slavic population representatives. Raw sequencing data were pre-processed, to obtain a 1200 character-long binary vector. A total of three classifiers were used—Random Forest, Support Vector Machine (SVM), and XGBoost. The most-promising results were obtained using SVM with a linear kernel, with 99.9% accuracy and F1-scores of 0.9846–1.000 for all classes.
T2  - International Journal of Molecular Sciences
T1  - A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe
IS  - 20
SP  - 15095
VL  - 24
DO  - 10.3390/ijms242015095
ER  - 

@article{
author = "Kloska, Anna and Giełczyk, Agata and Grzybowski, Tomasz and Płoski, Rafał and Kloska, Sylwester M. and Marciniak, Tomasz and Pałczyński, Krzysztof and Rogalla-Ładniak, Urszula and Malyarchuk, Boris A. and Derenko, Miroslava V. and Kovačević-Grujičić, Nataša and Stevanović, Milena and Drakulić, Danijela and Davidović, Slobodan and Spólnicka, Magdalena and Zubańska, Magdalena and Woźniak, Marcin",
year = "2023",
abstract = "Data obtained with the use of massive parallel sequencing (MPS) can be valuable in population genetics studies. In particular, such data harbor the potential for distinguishing samples from different populations, especially from those coming from adjacent populations of common origin. Machine learning (ML) techniques seem to be especially well suited for analyzing large datasets obtained using MPS. The Slavic populations constitute about a third of the population of Europe and inhabit a large area of the continent, while being relatively closely related in population genetics terms. In this proof-of-concept study, various ML techniques were used to classify DNA samples from Slavic and non-Slavic individuals. The primary objective of this study was to empirically evaluate the feasibility of discerning the genetic provenance of individuals of Slavic descent who exhibit genetic similarity, with the overarching goal of categorizing DNA specimens derived from diverse Slavic population representatives. Raw sequencing data were pre-processed, to obtain a 1200 character-long binary vector. A total of three classifiers were used—Random Forest, Support Vector Machine (SVM), and XGBoost. The most-promising results were obtained using SVM with a linear kernel, with 99.9% accuracy and F1-scores of 0.9846–1.000 for all classes.",
journal = "International Journal of Molecular Sciences",
title = "A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe",
number = "20",
pages = "15095",
volume = "24",
doi = "10.3390/ijms242015095"
}

Kloska, A., Giełczyk, A., Grzybowski, T., Płoski, R., Kloska, S. M., Marciniak, T., Pałczyński, K., Rogalla-Ładniak, U., Malyarchuk, B. A., Derenko, M. V., Kovačević-Grujičić, N., Stevanović, M., Drakulić, D., Davidović, S., Spólnicka, M., Zubańska, M.,& Woźniak, M.. (2023). A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe. in International Journal of Molecular Sciences, 24(20), 15095.
https://doi.org/10.3390/ijms242015095

Kloska A, Giełczyk A, Grzybowski T, Płoski R, Kloska SM, Marciniak T, Pałczyński K, Rogalla-Ładniak U, Malyarchuk BA, Derenko MV, Kovačević-Grujičić N, Stevanović M, Drakulić D, Davidović S, Spólnicka M, Zubańska M, Woźniak M. A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe. in International Journal of Molecular Sciences. 2023;24(20):15095.
doi:10.3390/ijms242015095 .

Kloska, Anna, Giełczyk, Agata, Grzybowski, Tomasz, Płoski, Rafał, Kloska, Sylwester M., Marciniak, Tomasz, Pałczyński, Krzysztof, Rogalla-Ładniak, Urszula, Malyarchuk, Boris A., Derenko, Miroslava V., Kovačević-Grujičić, Nataša, Stevanović, Milena, Drakulić, Danijela, Davidović, Slobodan, Spólnicka, Magdalena, Zubańska, Magdalena, Woźniak, Marcin, "A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe" in International Journal of Molecular Sciences, 24, no. 20 (2023):15095,
https://doi.org/10.3390/ijms242015095 . .

TY  - JOUR
AU  - Holub, Karolina
AU  - Malyarchuk, Boris
AU  - Derenko, Miroslava
AU  - Kovačević-Grujičić, Nataša
AU  - Stevanović, Milena
AU  - Drakulić, Danijela
AU  - Davidović, Slobodan
AU  - Grzybowski, Tomasz
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1913
AB  - Genetic markers for the prediction of biogeographical ancestry have proved to be effective tools for law enforcement agencies for many years now. In this study, we attempted to assess the potential of insertion-deletion markers (InDel) and microsatellites (STRs) as subsidiary polymorphisms for inference of Slavic population ancestry. For that purpose, we genotyped Slavic-speaking populations samples from Belarus, the Czech Republic, Poland, Serbia, Ukraine and Russia in 46 InDels and 15 STRs by PCR and capillary electrophoresis and analyzed for between-population differentiation with the use of distance-based methods (FST, principal component analysis and multidimensional scaling).Additionally, we studied a sample from a Polish individual of well-documented genealogy whose biogeographic ancestry had previously been inferred by commercial genomic services using autosomal single nucleotide polymorphisms (SNPs), mitochondrial DNA and Y-SNP markers. For comparative purposes, we used genotype data collected in the “forInDel” browser and allele frequencies from previously published papers. The results obtained for InDels and STRs show that the Slavic populations constitute a genetically homogeneous group, with the exception of the Czechs differing clearly from the other tested populations. The analysis of the known Polish sample in the Snipper application proves the usefulness of the InDel markers on the continental level only. Conversely, microsatellites not only improve prediction, but are also informative if considered as an independent set of ancestry markers.
AB  - Markery genetyczne do przewidywania pochodzenia biogeograficznego od wielu lat okazują się skutecznymi narzędziami dla organów ścigania. W tym badaniu podjęliśmy próbę oceny potencjału markerów insercyjno-delecyjnych
(InDel) i mikrosatelitarnych (STR) jako pomocniczych polimorfizmów do wnioskowania o pochodzeniu populacji
słowiańskiej. W tym celu genotypowaliśmy próbki populacji słowiańskojęzycznych z Białorusi, Czech, Polski, Serbii,
Ukrainy i Rosji w w zakresie 46 markerów InDel oraz 15 loci STR za pomocą PCR i elektroforezy kapilarnej oraz
analizowaliśmy pod kątem różnicowania między populacjami za pomocą metod bazujących na dystansach genetycznych (FST, analiza głównych składowych i skalowanie wielowymiarowe). Dodatkowo zbadaliśmy próbkę mężczyzny
z populacji polskiej o dobrze udokumentowanej genealogii, którego pochodzenie biogeograficzne zostało wcześniej
ustalone przez komercyjne usługi genomiczne przy użyciu autosomalnych polimorfizmów pojedynczych nukleotydów (SNP), mitochondrialnego DNA i markerów Y-SNP. Do celów porównawczych wykorzystaliśmy dane genotypowe zebrane w przeglądarce „forInDel” i częstości alleli z wcześniej opublikowanych artykułów. Uzyskane wyniki
dla InDels i STR wskazują, że populacje słowiańskie stanowią grupę genetycznie jednorodną, z wyjątkiem Czechów
wyraźnie różniących się od pozostałych badanych populacji. Analiza znanej polskiej próbki w aplikacji Snipper
dowodzi przydatności markerów InDel jedynie na poziomie kontynentalnym. Z kolei, mikrosatelity nie tylko poprawiają wyniki predykcji, ale są informatywne jako niezależny zestaw markerów pochodzenia biogeograficznego.
PB  - Polish Society of Forensic Medicine and Criminology
T2  - Archives of Forensic Medicine and Criminology
T1  - Verification of insertion-deletion markers (InDels) and microsatellites (STRs) as subsidiary tools for inferring Slavic population ancestry
T1  - Weryfikacja markerów insercyjno-delecyjnych (InDels)
i mikrosatelitarnych (STR) jako narzędzi pomocniczych
do wnioskowania o pochodzeniu populacji słowiańskiej
EP  - 137
IS  - 3
SP  - 120
VL  - 72
DO  - 10.4467/16891716AMSIK.22.015.17393
ER  - 

@article{
author = "Holub, Karolina and Malyarchuk, Boris and Derenko, Miroslava and Kovačević-Grujičić, Nataša and Stevanović, Milena and Drakulić, Danijela and Davidović, Slobodan and Grzybowski, Tomasz",
year = "2022",
abstract = "Genetic markers for the prediction of biogeographical ancestry have proved to be effective tools for law enforcement agencies for many years now. In this study, we attempted to assess the potential of insertion-deletion markers (InDel) and microsatellites (STRs) as subsidiary polymorphisms for inference of Slavic population ancestry. For that purpose, we genotyped Slavic-speaking populations samples from Belarus, the Czech Republic, Poland, Serbia, Ukraine and Russia in 46 InDels and 15 STRs by PCR and capillary electrophoresis and analyzed for between-population differentiation with the use of distance-based methods (FST, principal component analysis and multidimensional scaling).Additionally, we studied a sample from a Polish individual of well-documented genealogy whose biogeographic ancestry had previously been inferred by commercial genomic services using autosomal single nucleotide polymorphisms (SNPs), mitochondrial DNA and Y-SNP markers. For comparative purposes, we used genotype data collected in the “forInDel” browser and allele frequencies from previously published papers. The results obtained for InDels and STRs show that the Slavic populations constitute a genetically homogeneous group, with the exception of the Czechs differing clearly from the other tested populations. The analysis of the known Polish sample in the Snipper application proves the usefulness of the InDel markers on the continental level only. Conversely, microsatellites not only improve prediction, but are also informative if considered as an independent set of ancestry markers., Markery genetyczne do przewidywania pochodzenia biogeograficznego od wielu lat okazują się skutecznymi narzędziami dla organów ścigania. W tym badaniu podjęliśmy próbę oceny potencjału markerów insercyjno-delecyjnych
(InDel) i mikrosatelitarnych (STR) jako pomocniczych polimorfizmów do wnioskowania o pochodzeniu populacji
słowiańskiej. W tym celu genotypowaliśmy próbki populacji słowiańskojęzycznych z Białorusi, Czech, Polski, Serbii,
Ukrainy i Rosji w w zakresie 46 markerów InDel oraz 15 loci STR za pomocą PCR i elektroforezy kapilarnej oraz
analizowaliśmy pod kątem różnicowania między populacjami za pomocą metod bazujących na dystansach genetycznych (FST, analiza głównych składowych i skalowanie wielowymiarowe). Dodatkowo zbadaliśmy próbkę mężczyzny
z populacji polskiej o dobrze udokumentowanej genealogii, którego pochodzenie biogeograficzne zostało wcześniej
ustalone przez komercyjne usługi genomiczne przy użyciu autosomalnych polimorfizmów pojedynczych nukleotydów (SNP), mitochondrialnego DNA i markerów Y-SNP. Do celów porównawczych wykorzystaliśmy dane genotypowe zebrane w przeglądarce „forInDel” i częstości alleli z wcześniej opublikowanych artykułów. Uzyskane wyniki
dla InDels i STR wskazują, że populacje słowiańskie stanowią grupę genetycznie jednorodną, z wyjątkiem Czechów
wyraźnie różniących się od pozostałych badanych populacji. Analiza znanej polskiej próbki w aplikacji Snipper
dowodzi przydatności markerów InDel jedynie na poziomie kontynentalnym. Z kolei, mikrosatelity nie tylko poprawiają wyniki predykcji, ale są informatywne jako niezależny zestaw markerów pochodzenia biogeograficznego.",
publisher = "Polish Society of Forensic Medicine and Criminology",
journal = "Archives of Forensic Medicine and Criminology",
title = "Verification of insertion-deletion markers (InDels) and microsatellites (STRs) as subsidiary tools for inferring Slavic population ancestry, Weryfikacja markerów insercyjno-delecyjnych (InDels)
i mikrosatelitarnych (STR) jako narzędzi pomocniczych
do wnioskowania o pochodzeniu populacji słowiańskiej",
pages = "137-120",
number = "3",
volume = "72",
doi = "10.4467/16891716AMSIK.22.015.17393"
}

Holub, K., Malyarchuk, B., Derenko, M., Kovačević-Grujičić, N., Stevanović, M., Drakulić, D., Davidović, S.,& Grzybowski, T.. (2022). Verification of insertion-deletion markers (InDels) and microsatellites (STRs) as subsidiary tools for inferring Slavic population ancestry. in Archives of Forensic Medicine and Criminology
Polish Society of Forensic Medicine and Criminology., 72(3), 120-137.
https://doi.org/10.4467/16891716AMSIK.22.015.17393

Holub K, Malyarchuk B, Derenko M, Kovačević-Grujičić N, Stevanović M, Drakulić D, Davidović S, Grzybowski T. Verification of insertion-deletion markers (InDels) and microsatellites (STRs) as subsidiary tools for inferring Slavic population ancestry. in Archives of Forensic Medicine and Criminology. 2022;72(3):120-137.
doi:10.4467/16891716AMSIK.22.015.17393 .

Holub, Karolina, Malyarchuk, Boris, Derenko, Miroslava, Kovačević-Grujičić, Nataša, Stevanović, Milena, Drakulić, Danijela, Davidović, Slobodan, Grzybowski, Tomasz, "Verification of insertion-deletion markers (InDels) and microsatellites (STRs) as subsidiary tools for inferring Slavic population ancestry" in Archives of Forensic Medicine and Criminology, 72, no. 3 (2022):120-137,
https://doi.org/10.4467/16891716AMSIK.22.015.17393 . .

TY  - JOUR
AU  - Davidović, Slobodan
AU  - Malyarchuk, Boris
AU  - Grzybowski, Tomasz
AU  - Aleksić, Jelena M.
AU  - Derenko, Miroslava
AU  - Litvinov, Andrey
AU  - Rogalla-Ladniak, Urszula
AU  - Stevanović, Milena
AU  - Kovačević Grujičić, Nataša
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1324
AB  - Mitochondrial genome (mtDNA) is a valuable resource in resolving various human forensic casework. The usage of variability of complete mtDNA genomes increases their discriminatory power to the maximum and enables ultimate resolution of distinct maternal lineages. However, their wider employment in forensic casework is nowadays limited by the lack of appropriate reference database. In order to fill in the gap in the reference data, which, considering Slavic-speaking populations, currently comprises only mitogenomes of East and West Slavs, we present mitogenome data for 226 Serbians, representatives of South Slavs from the Balkan Peninsula. We found 143 (sub)haplogroups among which West Eurasian ones were dominant. The percentage of unique haplotypes was 85%, and the random match probability was as low as 0.53%. We support previous findings on both high levels of genetic diversity in the Serbian population and patterns of genetic differentiation among this and ten studied European populations. However, our high-resolution data supported more pronounced genetic differentiation among Serbians and two Slavic populations (Russians and Poles) as well as expansion of the Serbian population after the Last Glacial Maximum and during the Migration period (fourth to ninth century A.D.), as inferred from the Bayesian skyline analysis. Phylogenetic analysis of haplotypes found in Serbians contributed towards the improvement of the worldwide mtDNA phylogeny, which is essential for the interpretation of the mtDNA casework.
PB  - New York : Springer
T2  - International Journal of Legal Medicine
T1  - Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases
EP  - 1590
IS  - 5
SP  - 1581
VL  - 134
DO  - 10.1007/s00414-020-02324-x
ER  - 

@article{
author = "Davidović, Slobodan and Malyarchuk, Boris and Grzybowski, Tomasz and Aleksić, Jelena M. and Derenko, Miroslava and Litvinov, Andrey and Rogalla-Ladniak, Urszula and Stevanović, Milena and Kovačević Grujičić, Nataša",
year = "2020",
abstract = "Mitochondrial genome (mtDNA) is a valuable resource in resolving various human forensic casework. The usage of variability of complete mtDNA genomes increases their discriminatory power to the maximum and enables ultimate resolution of distinct maternal lineages. However, their wider employment in forensic casework is nowadays limited by the lack of appropriate reference database. In order to fill in the gap in the reference data, which, considering Slavic-speaking populations, currently comprises only mitogenomes of East and West Slavs, we present mitogenome data for 226 Serbians, representatives of South Slavs from the Balkan Peninsula. We found 143 (sub)haplogroups among which West Eurasian ones were dominant. The percentage of unique haplotypes was 85%, and the random match probability was as low as 0.53%. We support previous findings on both high levels of genetic diversity in the Serbian population and patterns of genetic differentiation among this and ten studied European populations. However, our high-resolution data supported more pronounced genetic differentiation among Serbians and two Slavic populations (Russians and Poles) as well as expansion of the Serbian population after the Last Glacial Maximum and during the Migration period (fourth to ninth century A.D.), as inferred from the Bayesian skyline analysis. Phylogenetic analysis of haplotypes found in Serbians contributed towards the improvement of the worldwide mtDNA phylogeny, which is essential for the interpretation of the mtDNA casework.",
publisher = "New York : Springer",
journal = "International Journal of Legal Medicine",
title = "Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases",
pages = "1590-1581",
number = "5",
volume = "134",
doi = "10.1007/s00414-020-02324-x"
}

Davidović, S., Malyarchuk, B., Grzybowski, T., Aleksić, J. M., Derenko, M., Litvinov, A., Rogalla-Ladniak, U., Stevanović, M.,& Kovačević Grujičić, N.. (2020). Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases. in International Journal of Legal Medicine
New York : Springer., 134(5), 1581-1590.
https://doi.org/10.1007/s00414-020-02324-x

Davidović S, Malyarchuk B, Grzybowski T, Aleksić JM, Derenko M, Litvinov A, Rogalla-Ladniak U, Stevanović M, Kovačević Grujičić N. Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases. in International Journal of Legal Medicine. 2020;134(5):1581-1590.
doi:10.1007/s00414-020-02324-x .

Davidović, Slobodan, Malyarchuk, Boris, Grzybowski, Tomasz, Aleksić, Jelena M., Derenko, Miroslava, Litvinov, Andrey, Rogalla-Ladniak, Urszula, Stevanović, Milena, Kovačević Grujičić, Nataša, "Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases" in International Journal of Legal Medicine, 134, no. 5 (2020):1581-1590,
https://doi.org/10.1007/s00414-020-02324-x . .