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Insights into human genetic variation and population history from 929 diverse genomes
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Abstract
Genomes from around the globe: Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination of specific populations. To add to our understanding of human genetic diversity, Bergström et al. generated whole-genome sequences surveying individuals in the Human Genome Diversity Project, which is a panel of global populations that has been instrumental in understanding the history of human populations. The authors' study adds data about African, Oceanian, and Amerindian populations and indicates that diversity tends to result from differences at the single-nucleotide level rather than copy number variation. An analysis of archaic sequences in modern populations identifies ancestral genetic variation in African populations that likely predates modern humans and has been lost in most non-African populations. Science , this issue p. eaay5012
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“we next computed the S prime statistic [31] in the Europeans and East Asian samples available in the Human Genome Diversity Panel (HGDP-CEPH) [37], using the Mbuti as an outgroup, and detected the SLC30A9 as a candidate for introgression in both groupings”
From Human genetic adaptation related to cellular zinc homeostasis (2023) · cites this paper as [37]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Self-citationRAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies
Stamatakis, A. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu033 · Cited by 32,291
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
BEDTools: a flexible suite of utilities for comparing genomic features
Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
Self-citationBEAST: Bayesian evolutionary analysis by sampling trees
Drummond, A. J., & Rambaut, A. (2007) · BMC Evolutionary Biology · doi:10.1186/1471-2148-7-214 · Cited by 13,104
Mathematical model for studying genetic variation in terms of restriction endonucleases.
Nei, M., & Li, W. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.10.5269 · Cited by 10,501
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Li, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr509 · Cited by 6,454
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Genomic structural variation: A complex but important driver of human evolution
Soto, D. C., Uribe‐Salazar, J. M., Shew, C. J., Sekar, A., McGinty, S. P., & Dennis, M. Y. (2023) · American Journal of Biological Anthropology · doi:10.1002/ajpa.24713 · Cited by 25
Demographic history and genetic structure in pre-Hispanic Central Mexico
Villa-Islas, V., Izarraras-Gomez, A., Larena, M., Campos, E. M. P., Sandoval‐Velasco, M., Rodríguez-Rodríguez, J. E., Bravo-Lopez, M., Moguel, B., Fregel, R., Garfias-Morales, E., et al. (2023) · Science · doi:10.1126/science.add6142 · Cited by 27
Full-resolution HLA and KIR gene annotations for human genome assembliesPreprint
Zhou, Y., Song, L., & Li, H. (2024) · Genome Research · doi:10.1101/gr.278985.124 · Cited by 25
The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
Peyrégne, S., Kelso, J., Peter, B. M., & Pääbo, S. (2022) · eLife · doi:10.7554/elife.75464 · Cited by 24
Ancestral Origins and Admixture History of Kazakhs
Lei, C., Liu, J., Zhang, R., Pan, Y., Lü, Y., Gao, Y., Ma, X., Yang, Y., Guan, Y., Mamatyusupu, D., et al. (2024) · Molecular Biology and Evolution · doi:10.1093/molbev/msae144 · Cited by 25
Ancient genomes reveal a deep history of Treponema pallidum in the Americas
Barquera, R., Sitter, T. L., Kirkpatrick, C. L., Ramírez, D. A., Kocher, A., Spyrou, M. A., Couoh, L. R., Talavera-González, J. A., Castro, M., von Hunnius, T. E., et al. (2024) · Nature · doi:10.1038/s41586-024-08515-5 · Cited by 33
A draft UAE-based Arab pangenome reference
Nassir, N., Almarri, M. A., Kumail, M., Mohamed, N., Balan, B., Hanif, S., AlObathani, M., Jamalalail, B. A., ElSokary, H. A., Kondaramage, D., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61645-w · Cited by 33
Self-citationHsieh, P., Dang, V., Vollger, M. R., Mao, Y., Huang, T., Dishuck, P. C., Baker, C. A., Cantsilieris, S., Lewis, A. P., Munson, K. M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-25435-4 · Cited by 23
Tetikol, H. S., Narcı, K., Turgut, D., Budak, G., Kalay, Ö., Arslan, E., Demirkaya-Budak, S., Dolgoborodov, A., Jain, A., Kabakci-Zorlu, D., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31724-3 · Cited by 29
Archetypal Analysis for population genetics
Gimbernat-Mayol, J., Mantes, A. D., Bustamante, C. D., Montserrat, D. M., & Ioannidis, A. G. (2022) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1010301 · Cited by 23
He, G., Chen, J., Liu, Y., Hu, R., Wang, P., Duan, S., Sun, Q., Tang, R., Tang, R., Yang, J., et al. (2024) · BMC Biology · doi:10.1186/s12915-024-01828-x · Cited by 26
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Kerdoncuff, É., Skov, L., Patterson, N. J., Zhao, W., Lueng, Y. Y., Schellenberg, G. D., Smith, J. A., Dey, S., Ganna, A., Dey, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.15.580575 · Cited by 26
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Salem, N., van de Loosdrecht, M. S., Sümer, A. P., Vai, S., Hübner, A., Peter, B. M., Bianco, R. A., Lari, M., Modi, A., Al-Faloos, M. F. M., et al. (2025) · Nature · doi:10.1038/s41586-025-08793-7 · Cited by 31
Yang, C., Hallmark, B., Chai, J. C., O’Connor, T. D., Reynolds, L. M., Wood, A. C., Seeds, M. C., Chen, Y. I., Steffen, L. M., Tsai, M. Y., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02431-4 · Cited by 26
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Pan, Y., Liu, P., Wang, F., Wu, P., Cheng, F., Jin, X., & Xu, S. (2022) · National Science Review · doi:10.1093/nsr/nwac118 · Cited by 21
Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan
Yang, Z., Chen, H., Lü, Y., Gao, Y., Sun, H., Wang, J., Li, J., Chu, J., & Xu, S. (2022) · BMC Biology · doi:10.1186/s12915-022-01367-3 · Cited by 23
He, G., Wang, J., Yang, L., Duan, S., Sun, Q., Li, Y., Wu, J., Wu, W., Wang, Z., Liu, Y., et al. (2023) · Human Genomics · doi:10.1186/s40246-023-00452-0 · Cited by 23
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Harney, É., Micheletti, S. J., Bruwelheide, K. S., Freyman, W. A., Bryc, K., Akbari, A., Jewett, E. M., Comer, E., Gates, H. L., Heywood, L. M., et al. (2023) · Science · doi:10.1126/science.ade4995 · Cited by 23
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Ning, C., Fernandes, D., Changmai, P., Flegontova, O., Yüncü, E., Maier, R., Altınışık, N. E., Kassian, A. S., Krause, J., Lalueza-Fox, C., et al. (2020) · doi:10.1101/2020.10.12.336628 · Cited by 19
Self-citationPadilla‐Iglesias, C., Atmore, L. M., Olivero, J., Lupo, K. D., Manica, A., Arango-Isaza, E., Vinicius, L., & Migliano, A. B. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.06.21.449204 · Cited by 23
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Koyama, S., Wang, Y., Paruchuri, K., Uddin, M. M., Cho, S. M. J., Urbut, S., Haidermota, S., Hornsby, W., Green, R. C., Daly, M. J., et al. (2023) · medRxiv · doi:10.1101/2023.10.24.23297096 · Cited by 23
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Rhead, B. L., Hein, D., Pouliot, Y., Guinney, J., Vega, F. M. D. L., & Sanford, N. N. (2024) · Genome Medicine · doi:10.1186/s13073-024-01373-w · Cited by 22
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Jordan, I. K., Sharma, S., & Mariño‐Ramírez, L. (2023) · Genes · doi:10.3390/genes14101840 · Cited by 21
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André, M., Brucato, N., Hudjashov, G., Pankratov, V., Yermakovich, D., Montinaro, F., Kreevan, R., Kariwiga, J., Muke, J., Boland, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-47735-1 · Cited by 27
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Jiang, T., Guo, H., Liu, Y., Li, G., Cui, Z., Cui, X., Liu, Y., Li, Y., Zhang, A., Cao, S., et al. (2024) · 中国科学通报:英文版 · doi:10.1016/j.scib.2024.06.017 · Cited by 21
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He, C., & Ding, C. H. Q. (2024) · Scientific Reports · doi:10.1038/s41598-024-71168-x · Cited by 27
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He, Y., Zhang, X., Peng, M., Li, Y.-C., Liu, K., Zhang, Y., Mao, L., Guo, Y., Ma, Y., Zhou, B., et al. (2025) · Nature · doi:10.1038/s41586-025-08998-w · Cited by 24
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Rusmini, M., Uva, P., Amoroso, A., Tolomeo, M., & Cavalli, A. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.650231 · Cited by 21
Saurabh, R., Fouodo, C. J. K., König, I. R., Busch, H. S., & Wohlers, I. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.972107 · Cited by 22
Fedorova, L. V., Владимирович, Х. А., Khvorykh, G. V., Lim, J., Thornton, N., Mulyar, O. A., Limborska, S., & Fedorov, A. (2022) · Genes · doi:10.3390/genes13081472 · Cited by 23
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Thuesen, A. C. B., Stæger, F. F., Kaci, A., Solheim, M. H., Aukrust, I., Jørsboe, E., Santander, C. G., Andersen, M. K., Li, Z., Gilly, A., et al. (2022) · The Lancet Regional Health - Europe · doi:10.1016/j.lanepe.2022.100529 · Cited by 21
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de Smith, A. J., Jiménez‐Morales, S., & Mejía‐Aranguré, J. M. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2023.1299355 · Cited by 27
Sun, J., Ma, P., Cheng, H., Wang, C., Li, Y., Cui, Y., Yao, H., Wen, S., & Wei, L. (2020) · American Journal of Physical Anthropology · doi:10.1002/ajpa.24173 · Cited by 19
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Patin, É., & Quintana‐Murci, L. (2024) · Annual Review of Immunology · doi:10.1146/annurev-immunol-082323-024638 · Cited by 21
Yang, M., Zhong, J.-D., Li, X., Tian, G., Bai, W.-Y., Fang, Y.-H., Qiu, M.-C., Yuan, C., Yu, C.-F., Li, N., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-55147-4 · Cited by 21
Wu, Q. Y., Cheng, H., Sun, N., Ma, P., Sun, J., Yao, H., Xie, Y., Li, Y., Meng, S., Zhabagin, M. K., et al. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0775-1 · Cited by 19
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Sàbat, B. O., Montserrat, D. M., Giró-i-Nieto, X., & Ioannidis, A. G. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac464 · Cited by 23
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Pan, Y., Wen, J., Ning, Z., Yuan, Y., Liu, X., Yang, Y., Guan, Y., Lü, Y., Mamatyusupu, D., & Xu, S. (2023) · Molecular Biology and Evolution · doi:10.1093/molbev/msad054 · Cited by 20
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Nicholson, S. L., Hosfield, R., Groucutt, H. S., Pike, A. W. G., & Fleitmann, D. (2021) · Journal of Anthropological Archaeology · doi:10.1016/j.jaa.2021.101269 · Cited by 20
Lou, H., Gao, Y., Xie, B., Wang, Y., Zhang, H., Shi, M., Ma, S., Zhang, X., Liu, C., & Xu, S. (2022) · Cell Systems · doi:10.1016/j.cels.2022.01.006 · Cited by 20
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Sharma, S., Nagar, S. D., Pemu, P. I., Zuchner, S. L., Pemu, P. I., Meller, R., Quarshie, A., Carroll, K., Sanders, L. L., Mosby, H., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59351-8 · Cited by 23
Liu, B., Ma, P., Wang, C., Yan, S. L., Yao, H., Li, Y., Xie, Y., Meng, S., Sun, J., Cai, Y., et al. (2020) · American Journal of Human Biology · doi:10.1002/ajhb.23462 · Cited by 19
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Smith, S. P., Shahamatdar, S., Cheng, W., Zhang, S., Paik, J., Graff, M., Haiman, C. A., Matise, T. C., North, K. E., Peters, U., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.03.005 · Cited by 17
Sun, Q., Wang, M., Lu, T., Duan, S., Liu, Y., Chen, J., Wang, Z., Sun, Y., Li, X., Wang, S., et al. (2024) · BMC Biology · doi:10.1186/s12915-024-01854-9 · Cited by 18
Wang, M., Sun, Q., Feng, Y., Wei, L., Liu, K., Luo, L., Huang, Y., Zhou, K., Yuan, H., Lv, H., et al. (2024) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2024.11.012 · Cited by 18
Capalbo, A., Buonaiuto, S., Figliuzzi, M., Damaggio, G., Girardi, L. D. C., Caroselli, S., Poli, M., Patassini, C., Çetinkaya, M., Yüksel, B., et al. (2022) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2022.05.009 · Cited by 18
Pilli, E., Morelli, S., Poggiali, B., & Alladio, E. (2022) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2022.102806 · Cited by 18
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Gong, J., Sun, H., Wang, K., Yanhui, Z., Huang, Y., Chen, Q., Qiao, H., Gao, Y., Zhao, J., Ling, Y., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56661-9 · Cited by 20
McQuillan, M. A., Ranciaro, A., Hansen, M. E. B., Fan, S., Beggs, W. R., Belay, G., Meskel, D. W., & Tishkoff, S. A. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac183 · Cited by 18
Ahmed, S., Altaf, N., Ejaz, M., Altaf, A., Amin, A., Janjua, K., Khan, A., Imran, I., & Khan, S. (2020) · Scientific Reports · doi:10.1038/s41598-020-76366-x · Cited by 17
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Abondio, P., Sarno, S., Giuliani, C., Laganà, V., Maletta, R., Bernardi, L., Bruno, F., Colao, R., Puccio, G., Frangipane, F., et al. (2021) · Biomedicines · doi:10.3390/biomedicines10010020 · Cited by 17
Fourcade, T., Goñi, M. F. S., Lahaye, C., Rossignol, L., & Philippe, A. (2022) · Quaternary Research · doi:10.1017/qua.2022.21 · Cited by 15
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Temple, S. D., Waples, R. K., & Browning, S. R. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.08.023 · Cited by 16
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Trost, B., Loureiro, L. O., & Scherer, S. W. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab209 · Cited by 20
Jimenez-Kaufmann, A., Chong, A. Y.-Y., Cortés, A., Quinto-Cortés, C. D., Fernández-Valverde, S. L., Ferreyra-Reyes, L. D., Cruz‐Hervert, L. P., Medina-Muñoz, S. G., Sohail, M., Palma-Martínez, M. J., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2021.719791 · Cited by 15
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Muktupavela, R., Petr, M., Ségurel, L., Korneliussen, T. S., Novembre, J., & Racimo, F. (2022) · eLife · doi:10.7554/elife.73767 · Cited by 18
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Yang, Z., Cieza, B., Reyes‐Dumeyer, D., Montesinos, R., Soto‐Añari, M., Custodio, N., & Tosto, G. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad437 · Cited by 15
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Ziyatdinov, A., Torres, J., Alegre-Díaz, J., Backman, J., Mbatchou, J. S., Turner, M., Gaynor, S. M., Joseph, T., Zou, Y., Liu, D., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.26.495014 · Cited by 15
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Pakendorf, B., & Stoneking, M. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa221 · Cited by 14
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Jain, A. K., Sharma, D., Bajaj, A., Gupta, V., & Scaria, V. (2021) · Advances in genetics · doi:10.1016/bs.adgen.2020.11.004 · Cited by 16
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Quan, C., Lu, H. X., Lu, Y., & Zhou, G. (2022) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2022.05.047 · Cited by 14
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Li, T., Ferraro, N. M., Strober, B. J., Aguet, F., Kasela, S., Arvanitis, M., Ni, B., Wiel, L., Hershberg, E. A., Ardlie, K., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100401 · Cited by 12
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Metadata
- Authors
- Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., Blanché, H., Deleuze, J.-F., Cann, H., Mallick, S., Reich, D., Sandhu, M. S., Skoglund, P., Scally, A., Xue, Y., Durbin, R., & Tyler-Smith, C.
- Affiliations
- The Francis Crick Institute (GB)
- University of Cambridge (GB)
- Wellcome Sanger Institute (GB)
- Monash University Malaysia (MY)
- University of Veterinary Medicine Vienna (AT)
- Fondation Jean Dausset-CEPH (FR)
- Broad Institute (US)
- Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
- Corresponding author
- Bergström, Anders
- ORCID
- Venue
- Science
- Published
- 2020-03-20
- Volume
- 367
- Issue
- 6484
- Pages
- eaay5012
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC7115999
- OpenAlex
- W3011413344
- Cited by
- 1,020
- References
- 79
- Citations by year
- 2026: 167 · 2025: 215 · 2024: 165 · 2023: 145 · 2022: 134 · 2021: 136 · 2020: 48
- FWCI
- 69.22
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Science (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- Apollo (University of Cambridge) (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Apollo
- Funders
- Wellcome (098051)
- Gates Cambridge Trust
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- human genetic variation, demographic history, human population structure, population divergence, Southern Africa, Central Africa, Oceania, Americas, hunter-gatherers, farmers, population size history, Neanderthal admixture, Denisovan admixture
- MeSH terms
- Whole Genome Sequencing, Africa, Americas, Animals, Asia, Genetics, Population, Haplotypes, Humans, Phylogeny, Population Density, Genetic Variation, Hominidae, Genome, Human, Polymorphism, Single Nucleotide, Oceania, Racial Groups, INDEL Mutation, DNA Copy Number Variations, Neanderthals
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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