Insights into human genetic variation and population history from 929 diverse genomes

Bergström, Anders, McCarthy, Shane A., Hui, Ruoyun, Almarri, Mohamed A., Ayub, Qasim, Danecek, Petr, Chen, Yuan, Felkel, Sabine, Hallast, Pille, Kamm, Jack, Blanché, Hélène, Deleuze, Jean-François, Cann, Howard, Mallick, Swapan, Reich, David, Sandhu, Manjinder S., Skoglund, Pontus, Scally, Aylwyn, Xue, Yali, Durbin, Richard, Tyler-Smith, Chris·2020·Science

DOI 10.1126/science.aay5012

Cited by (1,003)

Items 301–400 of 1,003

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Multiple Sources of Uncertainty Confound Inference of Historical Human Generation Times
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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
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Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
Ásmundur Oddsson, Valgerður Steinthórsdóttir, Gudjon R. Oskarsson, Unnur Styrkársdóttir, Kristjan H. S. Moore, Salvor Isberg, Gisli Hreinn Halldorsson, Garðar Sveinbjörnsson, David Westergaard, Henriette Svarre Nielsen et al. · 2024 · Nature Genetics
Genomic insights into Neolithic founding paternal lineages around the Qinghai-Xizang Plateau using integrated YanHuang resource
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Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels
Jasmine A. Mack, Ulla Sovio, Felix R. Day, Francesca Gaccioli, Emma Cook, Nadua Bayzid, Marius Cotic, Nathan J. Dunton, Gaganjit Kaur Madhan, Alison A. Motsinger‐Reif et al. · 2024 · Hypertension
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María J. Palma-Martínez, Yuridia S. Posadas‐García, Amara Shaukat, Brenda E. López-Ángeles, Mashaal Sohail · 2025 · Nature Medicine
Accelerated Bayesian inference of population size history from recombining sequence data
Jonathan Terhorst · 2025 · Nature Genetics
Covariation MS uncovers a protein that controls cysteine catabolism
Haopeng Xiao, Martha Ordonez, Emma C. Fink, Taylor A. Covington, Hilina B. Woldemichael, Junyi Chen, Mika Sarkin Jain, Milan H Rohatgi, Shelley M Wei, Nils Burger et al. · 2025 · Nature
Phytoplankton ecology in different coastal habitats along the northern Bay of Bengal
Subrata Sarker, Tania Sultana, Nazrul Islam, Md Sanwar Hossain, A.N.M. Samiul Huda, KM Zulkarnain, S.M. Sharifuzzaman · 2021 · Marine Ecology
The Genetic Echo of the Tarim Mummies in Modern Central Asians
Shan-Shan Dai, Xierzhatijiang Sulaiman, Jainagul Tolonovna Isakova, Wei-Fang Xu, Najmudinov Tojiddin Abdulloevich, Manilova Elena Afanasevna, Khudoidodov Behruz Ibrohimovich, Xi Chen, Wei-Kang Yang, Ming-Shan Wang et al. · 2022 · Molecular Biology and Evolution
Extensive genetic admixture between Tai-Kadai-speaking people and their neighbours in the northeastern region of the Yungui Plateau inferred from genome-wide variations
Jiawen Wang, Jun Wu, Qiuxia Sun, Qian Wu, Youjing Li, Shuhan Duan, Lin Yang, Wenxin Wu, Zheng Wang, Yan Liu et al. · 2023 · BMC Genomics
First Peoples in a New World: Populating Ice Age America
David J. Meltzer · 2021
Three Reagents for in-Solution Enrichment of Ancient Human DNA at More than a Million SNPs
Nadin Rohland, Swapan Mallick, Matthew Mah, Robert Maier, Nick J. Patterson, David Reich · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
Deep Variational Autoencoders for Population Genetics
Margarita Geleta, Daniel Mas Montserrat, Xavier Giró-i-Nieto, Alexander G. Ioannidis · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
Genetics and context for precision health in Greater Boston
Satoshi Koyama, Ying Wang, Kaavya Paruchuri, Md Mesbah Uddin, So Mi Jemma Cho, Sarah Urbut, Yang Sui, Akl C. Fahed, Himani Kamineni, Sara Haidermota et al. · 2025 · Nature Communications
The genomic footprint of social stratification in admixing American populations
Àlex Mas-Sandoval, Sara Mathieson, Matteo Fumagalli · 2023 · eLife
Adaptive Selection of Cis-regulatory Elements in the Han Chinese
Shuai Liu, Huaxia Luo, Peng Zhang, Yanyan Li, Di Hao, Sijia Zhang, Tingrui Song, Tao Xu, Shunmin He · 2024 · Molecular Biology and Evolution
Biases in ARG-Based Inference of Historical Population Size in Populations Experiencing Selection
Jacob Ian Marsh, Parul Johri · 2024 · Molecular Biology and Evolution
Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders
Bo Zhou, Joseph G. Arthur, Hanmin Guo, Taeyoung Kim, Yi‐Ling Huang, Reenal Pattni, Tao Wang, Soumya Kundu, Jay X. J. Luo, HoJoon Lee et al. · 2024 · Cell
Genetic association of IL17 and the importance of ABO blood group antigens in saliva to COVID-19
Nao Nishida, Masaya Sugiyama, Yosuke Kawai, Izumi Naka, Noriko Iwamoto, Tetsuya Suzuki, Michiyo Suzuki, Yusuke Miyazato, Satoshi O. Suzuki, Shinyu Izumi et al. · 2022 · Scientific Reports
Prioritization of putatively detrimental variants in euploid miscarriages
Silvia Buonaiuto, Immacolata Di Biase, Valentina Aleotti, Amin Ravaei, Adriano De Marino, Gianluca Damaggio, Marco Chierici, Madhuri Pulijala, Palmira D’Ambrosio, Gabriella Esposito et al. · 2022 · Scientific Reports
Mitochondrial genome variations, mitochondrial‐nuclear compatibility, and their association with metabolic diseases
Agnieszka H. Ludwig‐Słomczyńska, Markus Rehm · 2022 · Obesity
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy
Victoria Nicole Parikh, Alexander G. Ioannidis, David Jimenez‐Morales, John E. Gorzynski, Hannah N. De Jong, Xiran Liu, Jonasel Roque, Victoria P. Cepeda-Espinoza, Kazutoyo Osoegawa, Chris Hughes et al. · 2022 · Nature Communications
The main genetic locus associated with the evolution of gamecocks is centered on ISPD
Andrés Bendesky, Joseph Brew, Kerel X Francis, Enrique F. Tello Corbetto, Antonio González Ariza, Sergio Nogales, Tsuyoshi Shimmura · 2023 · G3 Genes Genomes Genetics
The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians
Charleston W. K. Chiang · 2021 · Frontiers in Genetics
Revisiting the out of Africa event with a deep-learning approach
Francesco Montinaro, Vasili Pankratov, Burak Yelmen, Luca Pagani, Mayukh Mondal · 2021 · The American Journal of Human Genetics
Bayesian model comparison for rare-variant association studies
Guhan Ram Venkataraman, Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander G. Ioannidis, Hakhamanesh Mostafavi, Chris C. A. Spencer, Timothy Poterba, Carlos D. Bustamante, Mark J. Daly et al. · 2021 · The American Journal of Human Genetics
Neanderthal introgression reintroduced functional alleles lost in the human out of Africa bottleneck
David C. Rinker, Corinne Simonti, Evonne McArthur, Douglas M. Shaw, Emily C. Hodges, John A. Capra · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
Whole-genome sequencing of ethnolinguistic diverse northwestern Chinese Hexi Corridor people from the 10K_CPGDP project suggested the differentiated East-West genetic admixture along the Silk Road and their biological adaptations
Guanglin He, Hongbing Yao, Qiuxia Sun, Shuhan Duan, Renkuan Tang, Jing Chen, Zhiyong Wang, Yuntao Sun, Xiangping Li, Shaomei Wang et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK , GRB14 , and KIAA0825 as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium
Farid Rajabli, Penelope H. Benchek, Giuseppe Tosto, Nicholas A. Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan‐Ping Lee, Jacob Haut, Kara L. Hamilton‐Nelson et al. · 2023 · medRxiv
Computationally Efficient Demographic History Inference from Allele Frequencies with Supervised Machine Learning
Linh Tran, Connie K. Sun, Travis J. Struck, Mathews Sajan, Ryan N. Gutenkunst · 2024 · Molecular Biology and Evolution
Human Y chromosome haplogroup L1-M22 traces Neolithic expansion in West Asia and supports the Elamite and Dravidian connection
Ajai Kumar Pathak, Hovann Simonian, Ibrahim Abdel Aziz Ibrahim, Peter Hrechdakian, Doron M. Behar, Qasim Ayub, Pakhrudin Arsanov, Ene Metspalu, Levon Yepiskoposyan, Siiri Rootsi et al. · 2024 · iScience
Unraveling the Tapestry of Pain: A Comprehensive Review of Ethnic Variations, Cultural Influences, and Physiological Mechanisms in Pain Management and Perception
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Testing times: disentangling admixture histories in recent and complex demographies using ancient DNA
Matthew P. Williams, Pavel Flegontov, Robert Maier, Christian D. Huber · 2024 · Genetics
Dense SNP-based analyses complement forensic anthropology biogeographical ancestry assessments
Sammed N. Mandape, Bruce Budowle, Heather E. McKiernan, Donia Slack, Sarah Mittelman, Kristen Mittelman, David Mittelman · 2024 · Forensic Science International Genetics
A previously reported bottleneck in human ancestry 900 kya is likely a statistical artifact
Yun Kai Deng, Rasmus Nielsen, Yun S. Song · 2024 · Genetics
The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics and bioinformatics
Leonardo Mariño‐Ramírez, Shivam Sharma, James Matthew Hamilton, Thanh Long Nguyen, Sonali A. Gupta, Aravinth Venkatesh Natarajan, Shashwat Deepali Nagar, Jay Landon Menuey, Wei‐An Chen, Adalberto Sánchez et al. · 2025 · Communications Biology
Blood groups of Neandertals and Denisova decrypted
Silvana Condémi, Stéphane Mazières, Pierre Faux, Caroline Costedoat, Andrés Ruiz‐Linares, Pascal Bailly, Jacques Chiaroni · 2021 · PLoS ONE
Forager mobility, landscape learning and the peopling of Late Pleistocene North America
Michael D. Cannon, David J. Meltzer · 2022 · Journal of Anthropological Archaeology
Multi-omic association study identifies DNA methylation-mediated genotype and smoking exposure effects on lung function in children living in urban settings
Matthew Dapas, Emma E. Thompson, William Wentworth-Sheilds, Selene M. Clay, Cynthia M. Visness, Agustin Calatroni, Joanne E. Sordillo, Diane R. Gold, Robert A. Wood, Melanie Makhija et al. · 2023 · PLoS Genetics
Ancient genomes illuminate Eastern Arabian population history and adaptation against malaria
Rui Martiniano, Marc Haber, Mohamed A. Almarri, Valeria Mattiangeli, Mirte C. M. Kuijpers, Bérénice Chamel, Emily M. Breslin, Judith Littleton, Salman Almahari, Fatima Aloraifi et al. · 2024 · Cell Genomics
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
V. Kartik Chundru, Zhancheng Zhang, Klaudia Walter, Sarah Lindsay, Petr Danecek, Ruth Y. Eberhardt, Eugene J. Gardner, Daniel Shiloh Malawsky, Emilie M. Wigdor, Rebecca I. Torene et al. · 2024 · Nature Genetics
SOMmelier—Intuitive Visualization of the Topology of Grapevine Genome Landscapes Using Artificial Neural Networks
Maria Nikogհosyan, Maria Schmidt, K. Margaryan, Henry Loeffler‐Wirth, Arsen Arakelyan, Hans Binder · 2020 · Genes
Methods for detecting introgressed archaic sequences
Sriram Sankararaman · 2020 · Current Opinion in Genetics & Development
Molecular genetic survey and forensic characterization of Chinese Mongolians via the 47 autosomal insertion/deletion marker
Mengge Wang, Guanglin He, Shuang Gao, Fuquan Jia, Xing Zou, Jing Liu, Shouyu Wang, Ziwei Ye, Yiping Hou, Zheng Wang · 2021 · Genomics
Identification of processed pseudogenes in the genome of Thoroughbred horses: Possibility of gene‐doping detection considering the presence of pseudogenes
Teruaki Tozaki, Aoi Ohnuma, Mio Kikuchi, Taichiro Ishige, Hironaga Kakoi, Kei-ichi HIROTA, Kanichi Kusano, Shun-ichi NAGATA · 2022 · Animal Genetics
Automatic detection of complex structural genome variation across world populations
Bo Zhou, Joseph G. Arthur, Hanmin Guo, Chris Hughes, Taeyoung Kim, Yi‐Ling Huang, Reenal Pattni, HoJoon Lee, Hanlee P. Ji, Giltae Song et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
Climate and mountains shaped human ancestral genetic lineages
Pierpaolo Maisano Delser, Mario Krapp, Robert M. Beyer, Eppie R. Jones, Eleanor F. Miller, Anahit Hovhannisyan, Michelle Parker, Veronika Siska, Maria Teresa Vizzari, Elizabeth J. Pearmain et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea
Ram González-Buenfil, Sofía Vieyra-Sánchez, Consuelo D. Quinto-Cortés, Stephen Oppenheimer, William S. Pomat, Moses Laman, Mayté C Cervantes-Hernández, Carmina Barberena-Jonas, Kathryn Auckland, Angela Allen et al. · 2024 · Genome Biology and Evolution
Genome-wide investigation of VNTR motif polymorphisms in 8,222 genomes: Implications for biological regulation and human traits
Sijia Zhang, Qiao Song, Peng Zhang, Xiaona Wang, Rong Guo, Yanyan Li, Shuai Liu, Xiaoyu Yan, Jingjing Zhang, Yiwei Niu et al. · 2024 · Cell Genomics
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Julia Sealock, Franjo Ivankovic, Calwing Liao, Siwei Chen, Claire L. Churchhouse, Konrad J. Karczewski, Daniel P. Howrigan, Benjamin M. Neale · 2025 · Nature Protocols
A map of blood regulatory variation in South Africans enables GWAS interpretation
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The 1000 Chinese Pangenome empowers medical and population genetics
Yifei Wang, Zhongqu Duan, Dan Chen, Dandan Shi, Yi Ding, Zhibin Wang, Baoqing Li, Zhiyi Wang, Minmin Guo, Wen Yang et al. · 2026 · Nature
Rapid adaptive increase of amylase gene copy number in Indigenous Andeans
Kendra Scheer, Luane J. B. Landau, Kelsey C. Jorgensen, Charikleia Karageorgiou, Lindsey Siao, Can Alkan, Angelis M. Morales Rivera, Christopher A. Osborne, Obed A. Garcia, Laurel Pearson et al. · 2026 · Nature Communications
Palaeoenvironments and hominin evolutionary dynamics in southeast Asia
Anne‐Marie Bacon, Nicolas Bourgon, Élise Dufour, Fabrice Demeter, Clément Zanolli, Kira Westaway, Renaud Joannes‐Boyau, Philippe Duringer, Jean‐Luc Ponche, Mike W. Morley et al. · 2023 · Scientific Reports
The Search for Ice Age Americans
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Human genetic adaptation related to cellular zinc homeostasis
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Biogeographic Perspectives on Human Genetic Diversification
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Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
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Neanderthal adaptive introgression shaped LCT enhancer region diversity without linking to lactase persistence in East Asian populations
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Analysis-ready VCF at Biobank scale using Zarr
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The genetic history of Portugal over the past 5,000 years
Xavier Roca‐Rada, Roberta Davidson, Matthew P. Williams, Shyamsundar Ravishankar, Evelyn Collen, Christian Haarkötter, Evelyn Collen, António Faustino Carvalho, Vanessa Villalba‐Mouco, Daniel R. Cuesta‐Aguirre et al. · 2025 · Genome biology
Human Population Genetic History and Evolutionary Dynamics on the Eastern Tibetan Plateau
Guanglin He, Shuhan Duan, Gang Chen, Chuan-Chao Wang, Haibing Yuan, Xiangping Li, Qiuxia Sun, Fengxiao Bu, Jing Cheng, Chao Liu et al. · 2025 · Molecular Biology and Evolution
Multiple southward migrations of Neolithic Chinese farmers into Southeast Asia revealed from large-scale Y-chromosome sequences
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Enamel proteins from six Homo erectus specimens across China
Qiaomei Fu, Zhongyou Wu, E. Andrew Bennett, Xia Song, Qiang Ji, Zhe Dong, Huiyun Rao, Xuejun Gu, Yizhao Dang, Jun Xing et al. · 2026 · Nature
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Emily Mira Warshauer, Adam Brown, Ignacia Fuentes, Jonathan Shortt, Christopher R. Gignoux, Francesco Montinaro, Mait Metspalu, Leila Youssefian, Hassan Vahidnezhad, J. Jackow et al. · 2021 · American Journal of Medical Genetics Part A
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Evolutionary profiles and complex admixture landscape in East Asia: New insights from modern and ancient Y chromosome variation perspectives
Zhiyong Wang, Mengge Wang, Liping Hu, Guanglin He, Shengjie Nie · 2024 · Heliyon
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Adaptive Evolution of Two Distinct Adaptive Haplotypes of Neanderthal Origin at the Immunoglobulin Heavy-chain Locus in East Asian and European Populations
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Demographic history and genetic variation of the Armenian population
Anahit Hovhannisyan, Pierpaolo Maisano Delser, Anna Hakobyan, Eppie R. Jones, Joshua G. Schraiber, Mariya Antonosyan, Ashot Margaryan, Zhe Xue, Sungwon Jeon, Jong Bhak et al. · 2024 · The American Journal of Human Genetics
Origins of human genetics. A personal perspective
Eberhard Passarge · 2021 · European Journal of Human Genetics
Overview of the Americas’ First Peopling from a Patrilineal Perspective: New Evidence from the Southern Continent
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A curated dataset of modern and ancient high-coverage shotgun human genomes
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The genetics of race differentiation—should it be studied?
Chung‐I Wu · 2023 · National Science Review
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Sai Zhang, Fereshteh Jahanbani, Varuna Chander, Martin Kjellberg, Menghui Liu, Katherine A. Glass, David S. Iu, Faraz Ahmed, Han Li, Rajan Douglas Maynard et al. · 2025 · medRxiv
A multidisciplinary overview on the Tupi‐speaking people expansion
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Initial upper Palaeolithic on the Iranian Plateau: Sorheh Rockshelter, Southern Alborz mountains
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Neolithic introgression of IL23R-related protection against chronic inflammatory bowel diseases in modern Europeans
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Picuris Pueblo oral history and genomics reveal continuity in US Southwest
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Urbanization and genetic homogenization in the medieval Low Countries revealed through a ten-century paleogenomic study of the city of Sint-Truiden
Owyn Beneker, Ludovica Molinaro, Meriam Guellil, Stefania Sasso, Helja Kabral, Biancamaria Bonucci, Noah Gaens, Eugenia D’Atanasio, Massimo Mezzavilla, Hélios Delbrassine et al. · 2025 · Genome biology
Leveraging global genetics resources to enhance polygenic prediction across ancestrally diverse populations
Oliver Pain · 2025 · Human Genetics and Genomics Advances
Genomic insights into population structure, adaptation, and archaic introgression at the Himalayan–East Asian crossroads
Mengge Wang, Shuhan Duan, Qiuxia Sun, Yuntao Sun, Lintao Luo, Yunhui Liu, Renkuan Tang, Libing Yun, Chao Liu, Guanglin He · 2025 · Journal of genetics and genomics/Journal of Genetics and Genomics
Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation
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Ancient genomes give insight into 160,000 years of East Asian population dynamics and biological adaptation
Guanglin He, Yuntao Sun, Shuhan Duan, Lintao Luo, Qiuxia Sun, Bowen Li, Libing Yun, Chao Liu, Mengge Wang · 2025 · Genome biology
Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia
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A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals
Diyendo Massilani, Stéphane Peyrégne, Leonardo Nicola Martin Iasi, Cesare de Filippo, Fabrizio Mafessoni, Alba Bossoms Mesa, Arev Pelin Sümer, Yaniv Swiel, Divyaratan Popli, Shahar Silverman et al. · 2026 · Proceedings of the National Academy of Sciences
The evolutionary history and unique genetic diversity of Indigenous Americans
Marcos Araújo Castro e Silva, Kelly Nunes, MA Ribeiro, Hemanoel Passarelli‐Araujo, Renan Barbosa Lemes, Lilian Kimura, Eliene Rodrigues Putira Sacuena, Carlos Eduardo G. Amorim, María Cátira Bortolini, José Geraldo Mill et al. · 2026 · Nature
Latin American Genes: The Great Forgotten in Rheumatoid Arthritis
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Parallel signatures of Mycobacterium tuberculosis and human Y-chromosome phylogeography support the Two Layer model of East Asian population history
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Ghosts of extinct apes: genomic insights into African hominid evolution
Robert Foley, Marta Mìrazón Lahr · 2024 · Trends in Ecology & Evolution
A comprehensive whole genome database of ethnic minority populations
Yan He, Changgui Lei, Chanjuan Wan, Shuang Zeng, Ting Zhang, Fei Luo, Ruichao Li, Xiaokun Li, Anshu Zhao, D.-Y. Xiao et al. · 2024 · Scientific Reports
Population genomics advances in frontier ethnic minorities in China
Hao Chen, Shuhua Xu · 2024 · Science China Life Sciences