UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups
Language English Country Great Britain, England Media print-electronic
Document type Journal Article
Grant support
101080117
EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020)
PRG1071
Eesti Teadusagentuur (Estonian Research Council)
PubMed
40341774
PubMed Central
PMC12229683
DOI
10.1038/s41431-025-01854-5
PII: 10.1038/s41431-025-01854-5
Knihovny.cz E-resources
- MeSH
- Databases, Genetic * MeSH
- Phylogeny MeSH
- Haplotypes * MeSH
- Polymorphism, Single Nucleotide * MeSH
- Humans MeSH
- Chromosomes, Human, Y * genetics MeSH
- Genetics, Population MeSH
- Software MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
For decades, there has been scientific interest in the variation and geographic distribution of paternal lineages associated with the human Y chromosome. However, the relevant data have been dispersed across numerous publications, making it difficult to consolidate. Additionally, understanding the relationships between different variants, and the tools used to analyze them, have evolved over time, further complicating efforts to harmonize this information. The Universal Y-SNP Database (UYSD) marks a substantial advancement by providing a comprehensive and accessible platform for Y-SNP and haplogroup data from populations around the world. UYSD harmonizes diverse datasets into a unified repository, facilitating the exploration of global Y-chromosomal variation. The platform handles data generated with both high- and low-throughput technology and is compatible with the automated analysis software tool, Yleaf v3. Key functionalities include the ability to: i) visualize haplogroup distributions on an interactive world map, ii) estimate haplogroup frequencies in geographic regions with sparse data through interpolation, and iii) display detailed phylogenetic trees of Y-chromosomal haplogroups. Currently, UYSD encompasses data from over 6,600 males across 27 populations. This dataset largely aligns with known global Y-haplogroup patterns, but also reveals unexplored finer-scale geographic variations. While the present dataset is largely European-centered, UYSD is designed for ongoing expansion by the scientific community, aiming to include more global data and higher-resolution population sequencing data. The platform thus offers valuable insights into human genetic diversity and migration patterns, serving several fields of research such as: human population genetics, genetic anthropology, ancient DNA analysis and forensic genetics.
Aristotle University of Thessaloniki Thessaloniki Greece
Department of Immunology Genetics and Pathology Uppsala University Uppsala Sweden
Forensic Science Program The Pennsylvania State University University Park PA USA
Hungarian Institute for Forensic Sciences Institute of Forensic Genetics Budapest Hungary
Institute for Anthropological Research Zagreb Croatia
Institute of Criminalistics Prague Czech Republic
Institute of Forensic Science Bratislava Slovak Republic
Institute of Legal Medicine Medical University of Innsbruck Innsbruck Austria
Institute of Legal Medicine University of Modena and Reggio Emilia Modena Italy
Laboratory of Human Genetic Genealogy Department Human Genetics KU Leuven Leuven Belgium
Lesotho Mounted Police Maseru Lesotho
Ludwig Maximilian University Institute of Legal Medicine Munich Germany
Medical University of Gdansk Gdańsk Poland
National Center for Biotechnology Astana Kazakhstan
National Institute of Standards and Technology Gaithersburg MD USA
National Research Institute of Police Science Kashiwa Japan
Nazarbayev University Astana Kazakhstan
SciLifeLab Uppsala University Uppsala Sweden
University Hospital of Cologne Institute of Legal Medicine Cologne Germany
University of Guadalajara Guadalajara Mexico
University of Leicester Leicester United Kingdom
University of Madeira Funchal Portugal
University of Salzburg Salzburg Austria
University of Szeged Szeged Hungary
University of Tartu Tartu Estonia
University of the Philippines Diliman Quezon City Philippines
See more in PubMed
Casanova M, Leroy P, Boucekkine C, Weissenbach J, Bishop C, Fellous M, et al. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science. 1985;230:1403–6. PubMed
Lucotte G, Ngo NY. p49f, A highly polymorphic probe, that detects Taq1 RFLPs on the human Y chromosome. Nucleic Acids Res. 1985;13:8285. PubMed PMC
Hurles ME, Irven C, Nicholson J, Taylor PG, Santos FR, Loughlin J, et al. European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA. Am J Hum Genet. 1998;63:1793–806. PubMed PMC
Jobling MA, Pandya A, Tyler-Smith C. The Y chromosome in forensic analysis and paternity testing. Int J Leg Med. 1997;110:118–24. PubMed
Sanchez JJ, Børsting C, Hallenberg C, Buchard A, Hernandez A, Morling N. Multiplex PCR and minisequencing of SNPs—a model with 35 Y chromosome SNPs. Forensic Sci Int. 2003;137:74–84. PubMed
Wetton JH, Tsang KW, Khan H. Inferring the population of origin of DNA evidence within the UK by allele-specific hybridization of Y-SNPs. Forensic Sci Int. 2005;152:45–53. PubMed
Berniell‐Lee G, Sandoval K, Mendizabal I, Bosch E, Comas D. SNPlexing the human Y‐chromosome: A single‐assay system for major haplogroup screening. Electrophoresis. 2007;28:3201–6. PubMed
van Oven M, Ralf A, Kayser M. An efficient multiplex genotyping approach for detecting the major worldwide human Y-chromosome haplogroups. Int J Leg Med. 2011;125:879–85. PubMed PMC
Onofri V, Alessandrini F, Turchi C, Pesaresi M, Buscemi L, Tagliabracci A. Development of multiplex PCRs for evolutionary and forensic applications of 37 human Y chromosome SNPs. Forensic Sci Int. 2006;157:23–35. PubMed
Gomes V, Sánchez-Diz P, Amorim A, Carracedo Á, Gusmão L. Digging deeper into East African human Y chromosome lineages. Hum Genet. 2010;127:603–13. PubMed
Geppert M, Baeta M, Nunez C, Martínez-Jarreta B, Zweynert S, Cruz OWV, et al. Hierarchical Y-SNP assay to study the hidden diversity and phylogenetic relationship of native populations in South America. Forensic Sci Int: Genet. 2011;5:100–4. PubMed
van Oven M, Toscani K, van den Tempel N, Ralf A, Kayser M. Multiplex genotyping assays for fine‐resolution subtyping of the major human Y‐chromosome haplogroups E, G, I, J, and R in anthropological, genealogical, and forensic investigations. Electrophoresis. 2013;34:3029–38. PubMed
Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF. New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 2008;18:830–8. PubMed PMC
Ralf A, van Oven M, Zhong K, Kayser M. Simultaneous analysis of hundreds of Y‐Chromosomal SNP s for high‐resolution paternal lineage classification using targeted semiconductor sequencing. Hum Mutat. 2015;36:151–9. PubMed
Ralf A, van Oven M, González DM, de Knijff P, van der Beek K, Wootton S, et al. Forensic Y-SNP analysis beyond SNaPshot: High-resolution Y-chromosomal haplogrouping from low quality and quantity DNA using Ion AmpliSeq and targeted massively parallel sequencing. Forensic Sci Int Genet. 2019;41:93–106. PubMed
Tao R, Li M, Chai S, Xia R, Qu Y, Yuan C, et al. Developmental validation of a 381 Y-chromosome SNP panel for haplogroup analysis in the Chinese populations. Forensic Sci Int Genet. 2023;62:102803. PubMed
Tillmar A, Sturk-Andreaggi K, Daniels-Higginbotham J, Thomas JT, Marshall C. The FORCE panel: an all-in-one SNP marker set for confirming investigative genetic genealogy leads and for general forensic applications. Genes. 2021;12:1968. PubMed PMC
Jobling MA, Tyler-Smith C. Human Y-chromosome variation in the genome-sequencing era. Nat Rev Genet. 2017;18:485–97. PubMed
Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, et al. The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades. Mol Biol Evol. 2015;32:661–73. PubMed PMC
Van Geystelen A, Decorte R, Larmuseau MHD. AMY-tree: an algorithm to use whole genome SNP calling for Y chromosomal phylogenetic applications. BMC Genomics. 2013;14:1–12. PubMed PMC
Poznik GD. Identifying Y-chromosome haplogroups in arbitrarily large samples of sequenced or genotyped men. BioRxiv. 2016. https://www.biorxiv.org/content/10.1101/088716v1. DOI
Ralf A, Montiel González D, Zhong K, Kayser M. Yleaf: software for human Y-chromosomal haplogroup inference from next-generation sequencing data. Mol Biol Evol. 2018;35:1291–4. PubMed
Yfull. Haplogroup YTree v10.01.00. 2022. Available from: https://www.yfull.com/arch-10.01/tree/.
Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau MHD. Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome. Hum Mutat. 2014;35:187–91. PubMed
Bodner M, Bastisch I, Butler JM, Fimmers R, Gill P, Gusmão L, et al. Recommendations of the DNA Commission of the International Society for Forensic Genetics (ISFG) on quality control of autosomal Short Tandem Repeat allele frequency databasing (STRidER). Forensic Sci Int Genet. 2016;24:97–102. PubMed
Willuweit S, Roewer L, International Forensic YCUG. Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet. 2007;1:83–7. PubMed
Parson W, Dür A. EMPOP—a forensic mtDNA database. Forensic Sci Int Genet. 2007;1:88–92. PubMed
Willuweit S, Roewer L. The new Y chromosome haplotype reference database. Forensic Sci Int Genet. 2015;15:43–8. PubMed
Django Software Foundation. Django. 2013. Available from: https://www.djangoproject.com/.
Van Rossum G, Drake FL. Python reference manual: Centrum voor Wiskunde en Informatica Amsterdam; 1995.
Hipp RD SQLite. 2020. Available from: https://www.sqlite.org/index.html.
Agafonkin V. Leaflet, an open-source JavaScript library for mobile-friendly interactive maps. 2010. Available from: https://leafletjs.com/.
OpenStreetMap contributors. 2017. Available from: https://www.openstreetmap.org.
MapTiles API. 2025. Available from: https://www.maptilesapi.com/.
Natural Earth. 2009. Available from: https://www.naturalearthdata.com/.
Excoffier L, Lischer HEL. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour. 2010;10:564–7. PubMed
Nei M. Analysis of gene diversity in subdivided populations. Proc Natl Acad Sci. 1973;70:3321–3. PubMed PMC
Chiaroni J, Underhill PA, Cavalli-Sforza LL. Y chromosome diversity, human expansion, drift, and cultural evolution. Proc Natl Acad Sci. 2009;106:20174–9. PubMed PMC
Myres NM, Rootsi S, Lin AA, Järve M, King RJ, Kutuev I, et al. A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe. Eur J Hum Genet. 2011;19:95–101. PubMed PMC
Underhill PA, Poznik GD, Rootsi S, Järve M, Lin AA, Wang J, et al. The phylogenetic and geographic structure of Y-chromosome haplogroup R1a. Eur J Hum Genet. 2015;23:124–31. PubMed PMC
Rootsi S, Kivisild T, Benuzzi G, Bermisheva M, Kutuev I, Barać L, et al. Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe. Am J Hum Genet. 2004;75:128–37. PubMed PMC
Semino O, Magri C, Benuzzi G, Lin AA, Al-Zahery N, Battaglia V, et al. Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet. 2004;74:1023–34. PubMed PMC
Battaglia V, Grugni V, Perego UA, Angerhofer N, Gomez-Palmieri JE, Woodward SR, et al. The first peopling of South America: new evidence from Y-chromosome haplogroup Q. PLoS One. 2013;8:e71390. PubMed PMC
Cruciani F, La Fratta R, Trombetta B, Santolamazza P, Sellitto D, Colomb EB, et al. Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12. Mol Biol Evol. 2007;24:1300–11. PubMed
Larmuseau MHD, Otten GPPL, Decorte R, Van Damme P, Moisse M. Defining Y-SNP variation among the Flemish population (Western Europe) by full genome sequencing. Forensic Sci Int Genet. 2017;31:e12–e6. PubMed
Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R, Martin M, et al. SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population. Eur J Hum Genet. 2017;25:1253–60. PubMed PMC
Otagiri T, Sato N, Asamura H, Parvanova E, Kayser M, Ralf A. RMplex reveals population differences in RM Y-STR mutation rates and provides improved father-son differentiation in Japanese. Forensic Sci Int Genet. 2022;61:102766. PubMed
Ottoni C, Larmuseau MHD, Vanderheyden N, Martínez‐Labarga C, Primativo G, Biondi G, et al. Deep into the roots of the Libyan Tuareg: a genetic survey of their paternal heritage. Am J Phys Anthropol. 2011;145:118–24. PubMed
Larmuseau MHD, Vessi A, Jobling MA, Van Geystelen A, Primativo G, Biondi G, et al. The paternal landscape along the Bight of Benin–Testing regional representativeness of West-African population samples using Y-chromosomal markers. PLoS One. 2015;10:e0141510. PubMed PMC
Rootsi S, Zhivotovsky LA, Baldovič M, Kayser M, Kutuev IA, Khusainova R, et al. A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe. Eur J Hum Genet. 2007;15:204–11. PubMed
Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature. 2023;621:355–64. PubMed PMC
Kayser M. Forensic use of Y-chromosome DNA: a general overview. Hum Genet. 2017;136:621–35. PubMed PMC