Arwin Ralf, Dion Zandstra, Bram van Wersch, Zehra Köksal, Maarten H. D. Larmuseau, Alexandra Rosa, Mark A. Jobling, Maria E. D’Amato, Cornelius Courts, Mario Gysi, Cordula Haas, Rodrigo Flores, Maximilian Neis, Jon H. Wetton, Kevin Kiesler, Adam Ameur, Simon Azonbakin, Alexandra Bôžiková, Andrej Choma, Maria Corazon De Ungria, Beatrice Corradini, Catarina Cruz, Bettina Dunkelmann, Gianmarco Ferri, Jan Fleckhaus, Domniki Fragou, Noah Gaens, Rita Gonçalves, Dubravka Havaš Auguštin, Katharina Helm, Petra Hölzl-Müller, Michał Kaliszan, Mohaimin Kasu, Leda Kovatsi, Mpasi Lesaoana, Natsuko Mizuno, Franz Neuhuber, Jana Nováčková, Alena Ňuňuková, Horolma Pamjav, Walther Parson, Yerlan Ramankulov, Héctor Rangel Villalobos, Krzysztof Rębała, Siiri Rootsi, Jazelyn Salvador, Jelena Šarac, Carolyn R. Steffen, Vlastimil Stenzl, Tibor Török, Richard Villems, Haruhiko Watahiki, Maxat Zhabagin, Peter M. Schneider, Manfred Kayser
{"title":"UYSD:一个新的数据库,可通过公共网站访问全球Y-SNP单倍群的人口频率。","authors":"Arwin Ralf, Dion Zandstra, Bram van Wersch, Zehra Köksal, Maarten H. D. Larmuseau, Alexandra Rosa, Mark A. Jobling, Maria E. D’Amato, Cornelius Courts, Mario Gysi, Cordula Haas, Rodrigo Flores, Maximilian Neis, Jon H. Wetton, Kevin Kiesler, Adam Ameur, Simon Azonbakin, Alexandra Bôžiková, Andrej Choma, Maria Corazon De Ungria, Beatrice Corradini, Catarina Cruz, Bettina Dunkelmann, Gianmarco Ferri, Jan Fleckhaus, Domniki Fragou, Noah Gaens, Rita Gonçalves, Dubravka Havaš Auguštin, Katharina Helm, Petra Hölzl-Müller, Michał Kaliszan, Mohaimin Kasu, Leda Kovatsi, Mpasi Lesaoana, Natsuko Mizuno, Franz Neuhuber, Jana Nováčková, Alena Ňuňuková, Horolma Pamjav, Walther Parson, Yerlan Ramankulov, Héctor Rangel Villalobos, Krzysztof Rębała, Siiri Rootsi, Jazelyn Salvador, Jelena Šarac, Carolyn R. Steffen, Vlastimil Stenzl, Tibor Török, Richard Villems, Haruhiko Watahiki, Maxat Zhabagin, Peter M. Schneider, Manfred Kayser","doi":"10.1038/s41431-025-01854-5","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"33 7","pages":"904-912"},"PeriodicalIF":4.6000,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41431-025-01854-5.pdf","citationCount":"0","resultStr":"{\"title\":\"UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups\",\"authors\":\"Arwin Ralf, Dion Zandstra, Bram van Wersch, Zehra Köksal, Maarten H. D. Larmuseau, Alexandra Rosa, Mark A. Jobling, Maria E. D’Amato, Cornelius Courts, Mario Gysi, Cordula Haas, Rodrigo Flores, Maximilian Neis, Jon H. Wetton, Kevin Kiesler, Adam Ameur, Simon Azonbakin, Alexandra Bôžiková, Andrej Choma, Maria Corazon De Ungria, Beatrice Corradini, Catarina Cruz, Bettina Dunkelmann, Gianmarco Ferri, Jan Fleckhaus, Domniki Fragou, Noah Gaens, Rita Gonçalves, Dubravka Havaš Auguštin, Katharina Helm, Petra Hölzl-Müller, Michał Kaliszan, Mohaimin Kasu, Leda Kovatsi, Mpasi Lesaoana, Natsuko Mizuno, Franz Neuhuber, Jana Nováčková, Alena Ňuňuková, Horolma Pamjav, Walther Parson, Yerlan Ramankulov, Héctor Rangel Villalobos, Krzysztof Rębała, Siiri Rootsi, Jazelyn Salvador, Jelena Šarac, Carolyn R. Steffen, Vlastimil Stenzl, Tibor Török, Richard Villems, Haruhiko Watahiki, Maxat Zhabagin, Peter M. Schneider, Manfred Kayser\",\"doi\":\"10.1038/s41431-025-01854-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":12016,\"journal\":{\"name\":\"European Journal of Human Genetics\",\"volume\":\"33 7\",\"pages\":\"904-912\"},\"PeriodicalIF\":4.6000,\"publicationDate\":\"2025-05-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.nature.com/articles/s41431-025-01854-5.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Human Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://www.nature.com/articles/s41431-025-01854-5\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://www.nature.com/articles/s41431-025-01854-5","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups
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.
期刊介绍:
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.
Key areas include:
-Monogenic and multifactorial disorders
-Development and malformation
-Hereditary cancer
-Medical Genomics
-Gene mapping and functional studies
-Genotype-phenotype correlations
-Genetic variation and genome diversity
-Statistical and computational genetics
-Bioinformatics
-Advances in diagnostics
-Therapy and prevention
-Animal models
-Genetic services
-Community genetics