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Emerging Topics in Population Genetics and Molecular Anthropology
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Emerging Topics in Population Genetics and Molecular Anthropology

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: 10 May 2026 | Viewed by 10384

Special Issue Editors

Dr. Jelena Šarac

E-Mail Website
Guest Editor
Centre for Applied Bioanthropology, Institute for Anthropological Research, Gajeva 32, 10000 Zagreb, Croatia
Interests: population genetics; medical genetics; molecular anthropology; ancient DNA; phylogenetics
Dr. Dubravka Havaš Auguštin

E-Mail Website
Guest Editor
Centre for Applied Bioanthropology, Institute for Anthropological Research, Gajeva 32, 10000 Zagreb, Croatia
Interests: population genetics; molecular anthropology; forensics; ancient DNA

Special Issue Information

Dear Colleagues,

Population genetics and molecular anthropology are rapidly evolving fields that have experienced transformative progress over the past decade, driven by technological advancements, novel computational methodologies, and interdisciplinary approaches. Whole-genome sequencing and ancient DNA analyses are providing unprecedented insights into human evolution and migratory patterns, while computational innovations, such as machine learning, are enhancing the accuracy of demographic reconstructions and admixture analyses. This Special Issue aims to consolidate recent developments in these fields and foster discussion on key topics. We welcome contributions on a range of topics, including, but not limited to: (1) contemporary population genetics, (2) archeogenetics based on aDNA studies, (3) forensic genetics, and (4) intra- and interpopulation human genetic diversity in the context of health and disease. We hope that this Special Issue will attract reviews and original scientific papers from these two exciting fields, as well as the interest of the wider scientific community and the readers of this journal.

Dr. Jelena Šarac
Dr. Dubravka Havaš Auguštin
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • population genetics
  • molecular anthropology
  • archeogenetics
  • forensic genetics
  • impact of genetic diversity on human health
  • evolution
  • genome
  • phylogenetics

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Published Papers (4 papers)

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Research

22 pages, 2080 KB  
Article
Uncovering a Medieval Pogrom: Genetic History of a Jewish Community in Catalonia (Spain)
by Laura Pallarés-Viña, Daniel R. Cuesta-Aguirre, M. Rosa Campoy-Caballero, Núria Armentano, Anna Colet, Assumpció Malgosa and Cristina Santos
Genes 2026, 17(3), 358; https://doi.org/10.3390/genes17030358 - 23 Mar 2026
Viewed by 4853
Abstract
Background/Objectives. The Black Death pandemic, combined with the antisemitic climate of 14th-century Europe, led to widespread violence against Jewish communities, including numerous pogroms such as the one in 1348 in Tàrrega (Catalonia, Spain). In the Roquetes necropolis of Tàrrega, six communal graves containing [...] Read more.
Background/Objectives. The Black Death pandemic, combined with the antisemitic climate of 14th-century Europe, led to widespread violence against Jewish communities, including numerous pogroms such as the one in 1348 in Tàrrega (Catalonia, Spain). In the Roquetes necropolis of Tàrrega, six communal graves containing at least sixty-nine individuals, with signs of violence, were dated to the mid-14th century. Based on the hypothesis that Iberian medieval Jewish communities preserve genetic similarities to other ancient and modern Jewish communities, our study aims to provide genomic information on medieval Iberian communities, which to date have been unknown. Methods. We analyzed DNA from sixteen individuals from the Roquetes necropolis using Twist ancient DNA enrichment capture. Several paleogenomic analyses based on nuclear DNA and uniparental markers were conducted to determine their genetic relatedness and population origin. Results. PCA and ADMIXTURE analyses revealed genetic affinities with ancient and modern Jewish populations. Uniparental markers, which exhibited high diversity, aligned with typical patterns within the Jewish community. The qpAdm modeling suggested that the genetic composition of the Roquetes population can be explained by a mixture of Canaan individuals (0.69) and the Iberian non-Jewish non-Islamic medieval population (0.31). No close genetic kinship was detected, but RHO analyses indicated a certain level of background endogamy. Conclusions. This is the first study to report genomic data for medieval Iberian Jews. Our findings reveal genomic affinities of the Roquetes individuals with ancient and modern Jewish populations and corroborate the previous attribution of the burials to victims of the 1348 Tàrrega pogrom. Full article
(This article belongs to the Special Issue Emerging Topics in Population Genetics and Molecular Anthropology)
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51 pages, 7791 KB  
Article
Hominin Variability and Evolutionary Relationships at Guattari Cave During the Middle and Late Pleistocene (San Felice Circeo, Latina, Italy)
by Mauro Rubini, Paola Zaio, Ferdinando Spanό, Flavio Cognigni, Marco Rossi, Alessandro Gozzi and Francesco Di Mario
Genes 2026, 17(2), 132; https://doi.org/10.3390/genes17020132 - 26 Jan 2026
Viewed by 1278
Abstract
Background/Objectives: Along the Tyrrhenian coast of central Italy, multilayered caves have yielded significant Neanderthal-era human remains. Recent excavations at Guattari Cave uncovered hominin fossils dated to approximately 66–65 ka, revealing a population with notable morpho-anatomical variability exhibiting both plesiomorphic (primitive) and autapomorphic (derived) [...] Read more.
Background/Objectives: Along the Tyrrhenian coast of central Italy, multilayered caves have yielded significant Neanderthal-era human remains. Recent excavations at Guattari Cave uncovered hominin fossils dated to approximately 66–65 ka, revealing a population with notable morpho-anatomical variability exhibiting both plesiomorphic (primitive) and autapomorphic (derived) traits. Methods: Here we present detailed morphometric and comparative analyses of cranial, dental, and postcranial remains, demonstrating affinities with Homo erectus (sensu stricto [s.s.] and lato [s.l.]), Proto-Neanderthals, classical Neanderthals, and Homo sapiens. Results: These findings indicate notable morpho-anatomical variability among the Guattari Cave hominin remains, with affinities to multiple hominin lineages during the Middle and Late Pleistocene. Pleistocene. Conclusions: The Guattari Cave assemblage thus contributes to our understanding of Eurasian hominin diversity and evolutionary dynamics, highlighting the Mediterranean as a region of interest for studying the phyletic continuity and diversity preceding modern humans. Full article
(This article belongs to the Special Issue Emerging Topics in Population Genetics and Molecular Anthropology)
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15 pages, 952 KB  
Article
At the Crossroads of Continents: Ancient DNA Insights into the Maternal and Paternal Population History of Croatia
by Damir Marjanović, Jelena Šarac, Dubravka Havaš Auguštin, Mario Novak, Željana Bašić, Ivana Kružić, Natalija Novokmet, Olivia Cheronet, Pere Gelabert, Ron Pinhasi, Gordan Lauc and Dragan Primorac
Genes 2026, 17(1), 80; https://doi.org/10.3390/genes17010080 - 9 Jan 2026
Viewed by 2681
Abstract
Background/Objectives: Southeastern Europe and Croatia have served as a genetic crossroads between the Near East and Europe since prehistoric times, shaped by numerous and repeated migrations. By integrating 19 newly generated ancient genomes with 285 previously published ancient genomes from Croatia, we investigated [...] Read more.
Background/Objectives: Southeastern Europe and Croatia have served as a genetic crossroads between the Near East and Europe since prehistoric times, shaped by numerous and repeated migrations. By integrating 19 newly generated ancient genomes with 285 previously published ancient genomes from Croatia, we investigated patterns of maternal and paternal landscapes from the Neolithic, Bronze, and Iron Ages through to the Antiquity and medieval periods, as well as the modern Croatian population. Methods: Ancient DNA extraction from human remains and library preparation were conducted in dedicated clean-room facilities, followed by high-throughput sequencing on the Illumina platform. Sequencing data were analyzed with established pipelines to determine mitochondrial and Y-chromosomal haplogroups and the genetic sex of individuals. Results: New ancient data reveal a predominantly European maternal profile, dominated by haplogroups H, U, and HV0, whereas Y-chromosomal lineages are characterized by J subclades and R1a, with limited representation of R1b and the absence of I2a. When combined with published ancient Croatian genomes, the results reveal similar haplogroup diversity and patterns, as well as the expansion of mtDNA haplogroup H over time and a substantial increase in Y-chromosome R1a and I2a haplogroup frequency from the prehistoric to the modern period. Conclusions: Although the analyzed samples are heterogeneous and originate from different historical periods, their genetic signatures conform to the broader patterns expected for the region. In a wider context, the ancient Croatian mitochondrial data reveal stronger genetic persistence from prehistory to modern times, unlike paternal lineages, which show significantly higher divergence. Full article
(This article belongs to the Special Issue Emerging Topics in Population Genetics and Molecular Anthropology)
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19 pages, 3454 KB  
Article
Uncovering the Genetic Structure of the Sekler Population in Transylvania Through Genome-Wide Autosomal Data
by András Szabó, Zsolt Bánfai, Katalin Sümegi, Valerián Ádám, Ferenc Gallyas, Miklós Kásler and Béla Melegh
Genes 2026, 17(1), 30; https://doi.org/10.3390/genes17010030 - 29 Dec 2025
Viewed by 720
Abstract
Background/Objectives: The Seklers are a Hungarian-speaking regional population in Transylvania, Romania, with a long and complex history, yet comprehensive genome-wide studies remain limited. Our aim was to characterize the genetic background of multiple Sekler communities using high-density autosomal data and to place them [...] Read more.
Background/Objectives: The Seklers are a Hungarian-speaking regional population in Transylvania, Romania, with a long and complex history, yet comprehensive genome-wide studies remain limited. Our aim was to characterize the genetic background of multiple Sekler communities using high-density autosomal data and to place them in a broader Central and Eastern European context. Methods: Here we analyzed genome-wide autosomal SNP data obtained from 17 Sekler groups. Allele frequency- and haplotype-based approaches were applied to assess overall genetic structure, ancestry patterns, recent shared ancestry, and signals of demographic history. Results: Analyses based on overall allele-frequency patterns showed that Sekler groups fit into a single, coherent genetic cluster shared with Hungarians. No major differences were detected among the Sekler communities at this broader genomic level, and their genetic profiles were largely indistinguishable from one another. Using haplotype-based methods, most Sekler groups again formed a compact cluster. However, two villages, Deményháza and Nyárádszentimre, showed clear signs of increased within-group relatedness and subtle separation. These patterns might indicate that both communities experienced stronger local drift and reduced effective population size, while other Sekler groups showed no comparable deviation from the general regional pattern. Conclusions: Although a small number of villages display modest signs of localized demographic drift, our results support that the Seklers represent a regionally distinct and internally cohesive population, whose genetic structure is shaped mainly by common historical and linguistic ties, with minor village-level variation, forming a uniform part of the Hungarian-speaking population of the East-Central European region. Full article
(This article belongs to the Special Issue Emerging Topics in Population Genetics and Molecular Anthropology)
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