The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Open accessAbstract
Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“It has been shown that Papuans and Indigenous Australians carry the largest amount of Denisovan introgression (∼1% to 5%), followed by East and South Asians (∼0.06% to 0.5%), and Indigenous Americans (∼0.05% to 0.4%) (Reich et al. 2010; Racimo et al. 2015; Mallick et al. 2016; Sankararaman et al. 2016; Browning et al. 2018).”
From The Human Accelerated Region HAR202 Controls NPAS3 Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences (2024) · cites this paper as Mallick et al. 2016
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“We caution, however, that our approach can artificially shorten haplotype block lengths (see Supplementary Methods and figs. S21 and S22), especially for populations such as Papuans and Australians that were absent from the 1000 Genomes Project panel (24) that was used for phasing (14).”
From An ancestral recombination graph of human, Neanderthal, and Denisovan genomes (2021) · cites this paper as [14]
The cited source says what the claim attributes to it.
In the citing paper
“Applying our approach to Neanderthal aSNPs segregating within present-day West Eurasians [31] replicates most of our findings, as well as previously reported signals including a depletion of Neanderthal variants within enhancer-like elements [12].”
From Denisovan introgression has shaped the immune system of present-day Papuans (2022) · cites this paper as [31]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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-citationPLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
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
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709
Fast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063
Self-citationFast 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
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Self-citationPopulation Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280
Self-citationA draft sequence of the Neandertal genome
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318
Self-citationAncient Admixture in Human History
Patterson, N., Moorjani, P., Luo, Y., Mallick, S., Rohland, N., Zhan, Y., Genschoreck, T., Webster, T., & Reich, D. (2012) · Genetics · doi:10.1534/genetics.112.145037 · Cited by 2,848
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Items 601–700 of 1,002
de Smith, A. J., Wahlster, L., Jeon, S., Kachuri, L., Black, S., Langie, J., Cato, L. D., Nakatsuka, N. J., Chan, T. F., Xia, G., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100526 · Cited by 23
The arms race between man and Mycobacterium tuberculosis: Time to regroup
Hoal, E. G., Dippenaar, A., Kinnear, C. J., van Helden, P. D., & Möller, M. (2017) · Infection Genetics and Evolution · doi:10.1016/j.meegid.2017.08.021 · Cited by 22
Zhang, C., Gao, Y., Liu, J., Xue, Z., Lü, Y., Deng, L., Tian, L., Feng, Q., & Xu, S. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx1032 · Cited by 20
Yew, C.-W., Hoque, M. Z., Pugh‐Kitingan, J., Minsong, A., Voo, C. L. Y., Ransangan, J., Lau, S. T. Y., Wang, X., Saw, W., Ong, R. T., et al. (2018) · Annals of Human Genetics · doi:10.1111/ahg.12246 · Cited by 20
Variation of 3D outer and inner crown morphology in modern human mandibular premolars
Krenn, V. A., Fornai, C., Wurm, L., Bookstein, F. L., Haeusler, M., & Weber, G. W. (2019) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23858 · Cited by 21
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
Clarkson, C., Roberts, R. G., Jacobs, Z. L., Marwick, B., Fullagar, R., Arnold, L. J., & Hua, Q. (2018) · Australian Archaeology · doi:10.1080/03122417.2018.1462884 · Cited by 21
The MUC19 gene: An evolutionary history of recurrent introgression and natural selection
Villanea, F. A., Peede, D., Kaufman, E. J., Añorve-Garibay, V., Chevy, E. T., Villa-Islas, V., Witt, K. E., Zeloni, R., Marnetto, D., Moorjani, P., et al. (2025) · Science · doi:10.1126/science.adl0882 · Cited by 25
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
Stuparević, I., Novačić, A., Rahmouni, A. R., Fernandez, A., Lamb, N. J. C., & Primig, M. (2021) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.12693 · Cited by 23
SALAI-Net: species-agnostic local ancestry inference network
Sàbat, B. O., Montserrat, D. M., Giró-i-Nieto, X., & Ioannidis, A. G. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac464 · Cited by 23
Ma, X., & Xu, S. (2022) · iScience · doi:10.1016/j.isci.2022.105614 · Cited by 22
Genetic continuity and change among the Indigenous peoples of California
Nakatsuka, N. J., Holguin, B., Sedig, J. W., Langenwalter, P. E., Carpenter, J. P., Culleton, B. J., García-Moreno, C., Harper, T. K., Martin, D. L., Ramírez, J. M., et al. (2023) · Nature · doi:10.1038/s41586-023-06771-5 · Cited by 20
Self-citationAncient genomes reveal insights into ritual life at Chichén Itzá
Barquera, R., Chávez, O. D. C., Nägele, K., Pérez-Ramallo, P., Hernández-Zaragoza, D. I., Szolek, A., Rohrlach, A. B., Librado, P., Childebayeva, A., Bianco, R. A., et al. (2024) · Nature · doi:10.1038/s41586-024-07509-7 · Cited by 20
Corny, J., Galland, M., Arzarello, M., Bacon, A., Demeter, F., Grimaud-Hervé, D., Higham, C. F., Matsumura, H., Nguyen, L. C., Nguyen, T. K. T., et al. (2017) · Journal of Human Evolution · doi:10.1016/j.jhevol.2017.08.017 · Cited by 21
Niespolo, E. M., Sharp, W. D., Tryon, C. A., Faith, J. T., Lewis, J., Ranhorn, K. L., Mambelli, S., Miller, M. J., & Dawson, T. E. (2020) · Quaternary Science Reviews · doi:10.1016/j.quascirev.2019.106142 · Cited by 19
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
Archaic mitochondrial DNA inserts in modern day nuclear genomes
Bücking, R., Cox, M. P., Hudjashov, G., Saag, L., Sudoyo, H., & Stoneking, M. (2019) · BMC Genomics · doi:10.1186/s12864-019-6392-8 · Cited by 21
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
Self-citationReconstruction of the Austronesian Diaspora in the Era of Genomics
Chambers, G. K., & Edinur, H. A. (2020) · Human Biology · doi:10.13110/humanbiology.92.4.04 · Cited by 78
Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia
Deng, L., Pan, Y., Wang, Y., Chen, H., Yuan, K., Chen, S., Lu, D., Lü, Y., Mokhtar, S. S., Rahman, T. H. A., et al. (2021) · Molecular Biology and Evolution · doi:10.1093/molbev/msab361 · Cited by 20
Kaifu, Y., Kurniawan, I., Yurnaldi, D., Setiawan, R., Setiyabudi, E., Insani, H., Takai, M., Nishioka, Y., Takahashi, A., Aziz, F., et al. (2022) · Journal of Human Evolution · doi:10.1016/j.jhevol.2021.103122 · Cited by 19
Higher native Peruvian genetic ancestry proportion is associated with tuberculosis progression risk
Asgari, S., Luo, Y., Huang, C.-C., Zhang, Z., Calderon, R. I., Jiménez, J., Yataco, R. M., Contreras, C. C., Galea, J. T., Lecca, L. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100151 · Cited by 22
You Will Never Walk Alone: Codispersal of JC Polyomavirus with Human Populations
Forni, D., Cagliani, R., Clerici, M., Pozzoli, U., & Sironi, M. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz227 · Cited by 19
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta)
Brasó‐Vives, M., Povolotskaya, I., Hartasánchez, D. A., Farré, X., Fernández-Callejo, M., Raveendran, M., Harris, R. A., Rosene, D. L., Lorente-Galdós, B., Navarro, A., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008742 · Cited by 18
Debortoli, G., Abbatangelo, C. L., Ceballos, F. C., Fortes‐Lima, C., Norton, H., Ozarkar, S., Parra, E. J., & Jonnalagadda, M. (2020) · Scientific Reports · doi:10.1038/s41598-020-66953-3 · Cited by 20
The genetic assimilation in language borrowing inferred from Jing People
Huang, X., Zhou, Q.-H., Bin, X., Lai, S., Lin, C., Hu, R., Xiao, J., Luo, D., Li, Y., Wei, L., et al. (2018) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23449 · Cited by 18
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing
Soto, D. C., Shew, C. J., Mastoras, M., Schmidt, J. M., Sahasrabudhe, R. M., Kaya, G., Andrés, A. M., & Dennis, M. Y. (2020) · Genes · doi:10.3390/genes11030276 · Cited by 18
The Genomic Formation of Human Populations in East AsiaPreprint
Wang, C., 王传超, Yeh, H., Popov, А. N., Zhang, H., Matsumura, H., Sirak, K. A., Cheronet, O., Kovalev, A., Rohland, N., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.03.25.004606v1 · Cited by 21
Self-citationAncient Rapanui genomes reveal resilience and pre-European contact with the Americas
Moreno-Mayar, J. V., Sousa da Mota, B., Higham, T., Klemm, S., Gorman Edmunds, M., Stenderup, J., Iraeta-Orbegozo, M., Laborde, V., Heyer, E., Torres Hochstetter, F., et al. (2024) · Nature · doi:10.1038/s41586-024-07881-4 · Cited by 20
“For analyses relying on a whole-genome world-wide panel, we considered the Simons Genome Diversity Project 44 (v4 callset) as distributed in https://sharehost.hms.harvard.edu/genetics/ reich_lab/sgdp/variant_set/.”
Centrality Measure Analysis on Protein Interaction Networks
Ali, A., Hulipalled, V. R., & Patil, S. S. (2020) · IEEE International Conference on Technology, Engineering, Management for Societal Impact using Marketing, Entrepreneurship and Talent (TEMSMET) · doi:10.1109/temsmet51618.2020.9557447 · Cited by 18
Genetic Affinities and Adaptation of the South-West Coast Populations of India
Kumar, L., Chowdhari, A., Sequeira, J. J., Mustak, M. S., Banerjee, M., & Kumarasamy Thangaraj, K. (2023) · Genome Biology and Evolution · doi:10.1093/gbe/evad225 · Cited by 17
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
Genome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm
Wang, M., Duan, S., Li, X., Yang, J., Yuan, H., Liu, C., & He, G. (2025) · The Innovation Life · doi:10.59717/j.xinn-life.2025.100131 · Cited by 24
Schmid, A. B., Adhikari, K., Ramírez, L. M., Chacón-Duque, J. C., Poletti, G., Gallo, C., Rothhammer, F., Bedoya, G., Ruiz‐Linares, A., & Bennett, D. (2019) · BMJ Open · doi:10.1136/bmjopen-2018-025530 · Cited by 18
Self-citationDual ancestries and ecologies of the Late Glacial Palaeolithic in Britain
Charlton, S., Brace, S., Hajdinjak, M., Kearney, R. J., Booth, T., Reade, H., Tripp, J. A., Sayle, K. L., Grimm, S. B., Bello, S. M., et al. (2022) · Nature Ecology & Evolution · doi:10.1038/s41559-022-01883-z · Cited by 19
Self-citationPaleo-Eskimo genetic legacy across North AmericaPreprint
Flegontov, P., Altınışık, N. E., Changmai, P., Rohland, N., Mallick, S., Bolnick, D. A., Candilio, F., Flegontova, O., Jeong, C., Harper, T. K., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/203018 · Cited by 18
Self-citationGenetic continuity of Indo-Iranian speakers since the Iron Age in southern Central Asia
Guarino‐Vignon, P., Marchi, N., Bendezú-Sarmiento, J., Heyer, É., & Bon, C. (2022) · Scientific Reports · doi:10.1038/s41598-021-04144-4 · Cited by 16
The immunogenetic impact of European colonization in the Americas
Collen, E., Johar, A., Teixeira, J. C., & Llamas, B. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.918227 · Cited by 19
Allen, E., Yu, Y., Yang, X., Xu, Y., Du, P., Xiong, J., Chen, D., Tian, X., Wu, Y., Qin, X., et al. (2022) · Frontiers in Ecology and Evolution · doi:10.3389/fevo.2022.932004 · Cited by 17
Genomic evidence for adaptation to tuberculosis in the Andes before European contact
Joseph, S. K., Migliore, N. R., Olivieri, A., Torroni, A., Owings, A. C., DeGiorgio, M., Ordóñez, W. G., Ortiz-Aguilu, J. J., González‐Andrade, F., Achilli, A., et al. (2023) · iScience · doi:10.1016/j.isci.2023.106034 · Cited by 17
Genetic architecture in Greenland is shaped by demography, structure and selection
Stæger, F. F., Andersen, M. K., Li, Z., Hjerresen, J. P., He, S., Santander, C. G., Jensen, R. T., Rex, K. F., Thuesen, A. C. B., Hanghøj, K., et al. (2025) · Nature · doi:10.1038/s41586-024-08516-4 · Cited by 19
Introgression Makes Waves in Inferred Histories of Effective Population Size
Hawks, J. D. (2017) · Human Biology · doi:10.13110/humanbiology.89.1.04 · Cited by 19
Ancient DNA comes of age, but still has some teenage problems
Morris, A. G. (2017) · South African Journal of Science · doi:10.17159/sajs.2017/a0232 · Cited by 17
MSeq-CNV: accurate detection of Copy Number Variation from Sequencing of Multiple samples
Malekpour, S. A., Pezeshk, H., & Sadeghi, M. (2018) · Scientific Reports · doi:10.1038/s41598-018-22323-8 · Cited by 17
TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data
Goubert, C., Thomas, J., Payer, L. M., Kidd, J. M., Feusier, J. E., Watkins, W. S., Burns, K. H., Jorde, L. B., & Feschotte, C. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa074 · Cited by 18
Self-citationFine-Scale Genetic Structure and Demographic History in the Miyako Islands of the Ryukyu Archipelago
Matsunami, M., Koganebuchi, K., Imamura, M., Ishida, H., Kimura, R., & Maeda, S. (2021) · Molecular Biology and Evolution · doi:10.1093/molbev/msab005 · Cited by 17
Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights
Aguilar-Ordóñez, I., Pérez‐Villatoro, F., Garcia‐Ortíz, H., Barajas-Olmos, F. M., Ballesteros-Villascán, J., González-Buenfil, R., Fresno, C., Garcíarrubio, A., Fernández-López, J. C., Tovar, H., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0249773 · Cited by 19
Guo, J., Wang, W., Zhao, K., Li, G., He, G., Zhao, J., Yang, X., Chen, J., Zhu, K., Wang, R., et al. (2021) · American Journal of Biological Anthropology · doi:10.1002/ajpa.24434 · Cited by 59
Sepúlveda, P. B. P., Mayordomo, A. C., Sala, C., Sosa, E. J., Zaiat, J., Cuello, M., Schwab, M., Golpe, D. R., Aquilano, E., Santos, M. R., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0271971 · Cited by 18
Self-citationEast and Southeast Asian hominin dispersal and evolution: A review
Sawafuji, R., Tsutaya, T., Takahata, N., Pedersen, M. W., & Ishida, H. (2024) · Quaternary Science Reviews · doi:10.1016/j.quascirev.2024.108669 · Cited by 17
Homo sapiens, Neanderthals and speciation complexity in palaeoanthropology
Meneganzin, A., & Stringer, C. B. (2024) · Evolutionary Journal of the Linnean Society · doi:10.1093/evolinnean/kzae033 · Cited by 17
Garcia-Salinas, O. I., Hwang, S., Huang, Q. Q., Sanghvi, R., Malawsky, D. S., Kaplanis, J., Neville, M. D. C., Day, F. R., Rahbari, R., Scally, A., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59750-x · Cited by 21
Saitou, M., Resendez, S. D., Pradhan, A. J., Wu, F., Lie, N. C., Hall, N. J., Zhu, Q., Reinholdt, L. G., Satta, Y., Speidel, L., et al. (2021) · Science Advances · doi:10.1126/sciadv.abi4476 · Cited by 19
Emerging Technologies for Understanding Platelet Diversity
Heemskerk, J. W. M., & West, J. J. (2022) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.121.317092 · Cited by 16
Diversity and its causes: Lewontin on racism, biological determinism and the adaptationist programme
Shen, H., & Feldman, M. W. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0417 · Cited by 16
Kelly, R. L., Mackie, M. E., & Kandel, A. W. (2023) · Journal of Archaeological Science · doi:10.1016/j.jas.2023.105885 · Cited by 17
Koptekin, D., Yapar, E., Vural, K. B., Sağlıcan, E., Altınışık, N. E., Malaspinas, A., Alkan, C., & Somel, M. (2025) · Genome biology · doi:10.1186/s13059-024-03462-w · Cited by 17
Chiral symmetry breaking by a magnetic field in graphene
Kandemir, B. S., & Mogulkoc, A. (2015) · Physics Letters A · doi:10.1016/j.physleta.2015.06.057 · Cited by 16
SRGAP2 and the gradual evolution of the modern human language faculty
Martins, P. T., Marí, M., & Boeckx, C. A. (2018) · Journal of Language Evolution · doi:10.1093/jole/lzx020 · Cited by 15
Discovery of genomic variation across a generation
Trost, B., Loureiro, L. O., & Scherer, S. W. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab209 · Cited by 20
Indigenous Ancestry and Admixture in the Uruguayan Population
Spangenberg, L., Fariello, M. I., Arce, D., Illanes, G., Greif, G., Shin, J.-Y., Yoo, S., Seo, J., Robello, C., Kim, C., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.733195 · Cited by 16
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
Self-citationChangmai, P., Pinhasi, R., Pietrusewsky, M., Stark, M. T., Ikehara-Quebral, R. M., Reich, D., & Flegontov, P. (2022) · Scientific Reports · doi:10.1038/s41598-022-26799-3 · Cited by 18
Self-citationInferring adaptive gene-flow in recent African historyPreprint
Busby, G., Christ, R., Band, G., Leffler, E. M., Le, S. Q., Rockett, K. A., Kwiatkowski, D. P., & Spencer, C. C. A. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/205252 · Cited by 16
Ancient trans-species polymorphism at the Major Histocompatibility Complex in primates
Fortier, A. L., & Pritchard, J. K. (2025) · eLife · doi:10.7554/elife.103547.3 · Cited by 14
Biobank-scale inference of multi-individual identity by descent and gene conversion
Browning, S. R., & Browning, B. L. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.02.015 · Cited by 15
Abrupt onset of intensive human occupation 44,000 years ago on the threshold of Sahul
Shipton, C., Morley, M. W., Kealy, S., Norman, K., Boulanger, C., Hawkins, S., Litster, M., Withnell, C., & O’Connor, S. (2024) · Nature Communications · doi:10.1038/s41467-024-48395-x · Cited by 15
Ancient DNA challenges prevailing interpretations of the Pompeii plaster casts
Pilli, E., Vai, S., Moses, V. C., Morelli, S., Lari, M., Modi, A., Diroma, M. A., Amoretti, V., Zuchtriegel, G., Osanna, M., et al. (2024) · Current Biology · doi:10.1016/j.cub.2024.10.007 · Cited by 18
Self-citationVariation and Functional Impact of Neanderthal Ancestry in Western Asia
Taşkent, R. Ö., Alioğlu, D., Fer, E., Dönertaş, H. M., Somel, M., & Gökçümen, Ö. (2017) · Genome Biology and Evolution · doi:10.1093/gbe/evx216 · Cited by 20
Genovese, L. M., Geraci, F., Corrado, L., Mangano, E., D’Aurizio, R., Bordoni, R., Severgnini, M., Manzini, G., Bellis, G. D., D’Alfonso, S., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00155 · Cited by 16
The evolutionary history of Southern Africa
Montinaro, F., & Capelli, C. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.11.003 · Cited by 14
Self-citationForensic inference of biogeographical ancestry from genotype: The Genetic Ancestry Lab
McNevin, D. B. (2019) · Wiley Interdisciplinary Reviews Forensic Science · doi:10.1002/wfs2.1356 · Cited by 15
Introgressive Hybridization and Hypoxia Adaptation in High-Altitude Vertebrates
Storz, J. F., & Signore, A. V. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.696484 · Cited by 16
Population-scale detection of non-reference sequence variants using colored de Bruijn graphs
Krannich, T., White, W. T. J., Niehus, S., Holley, G., Halldórsson, B. V., & Kehr, B. (2021) · Bioinformatics · doi:10.1093/bioinformatics/btab749 · Cited by 15
Tvedebrink, T. (2022) · Genes · doi:10.3390/genes13010141 · Cited by 14
Long Runs of Homozygosity Are Correlated with Marriage Preferences across Global Population Samples
Sahoo, S. A., Zaidi, R. A., Anagol, S., & Mathieson, I. (2021) · Human Biology · doi:10.1353/hub.2021.0011 · Cited by 15
Self-citationAmos, W. (2020) · Royal Society Open Science · doi:10.1098/rsos.191900 · Cited by 15
Valle-Silva, G., Frontanilla, T. S., Ayala, J., Donadi, E. A., Simões, A. L., Castelli, E. C., & Mendes-Junior, C. T. (2022) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2022.102676 · Cited by 13
A signature of Neanderthal introgression on molecular mechanisms of environmental responses
Findley, A. S., Zhang, X., Boye, C., Lin, Y. L., Kalita, C. A., Barreiro, L., Lohmueller, K. E., Pique-Regi, R., & Luca, F. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009493 · Cited by 14
Whole-genome ancestry of an Old Kingdom Egyptian
Morez, A., Irish, J. D., Cooke, A., Anastasiadou, K., Barrington, C., Gilardet, A., Kelly, M., Silva, M. S. D., Speidel, L., Tait, F., et al. (2025) · Nature · doi:10.1038/s41586-025-09195-5 · Cited by 20
Self-citationGenomic evidence supports the “long chronology” for the peopling of Sahul
Gandini, F., Almeida, M., Foody, M. G. B., Nagle, N., Bergström, A., Olivieri, A., Rodrigues, S., Fichera, A., Oteo‐García, G., Torroni, A., et al. (2025) · Science Advances · doi:10.1126/sciadv.ady9493 · Cited by 14
The genomic prehistory of peoples speaking Khoisan languages
Pakendorf, B., & Stoneking, M. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa221 · Cited by 14
Population-scale genotyping of structural variation in the era of long-read sequencing
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
The arrival of Homo sapiens in the Near East and Europe
Picin, A., Moroni, A., & Benazzi, S. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-821428-2.00021-4 · Cited by 14
The genomic landscape of contemporary western Remote Oceanians
Arauna, L. R., Bergstedt, J., Choin, J., Mendoza‐Revilla, J., Harmant, C., Roux, M., Mas-Sandoval, À., Lemée, L., Colleran, H., François, A. R. J., et al. (2022) · Current Biology · doi:10.1016/j.cub.2022.08.055 · Cited by 17
Evolutionarily recent retrotransposons contribute to schizophrenia
Modenini, G., Abondio, P., Guffanti, G., Boattini, A., & Macciardi, F. M. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02472-9 · Cited by 16
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia
Mahungu, A. C., Steyn, E., Floudiotis, N., Wilson, L. A., Vandrovcová, J., Reilly, M. M., Record, C. J., Benatar, M. G., Wu, G., Raga, S. V., et al. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1239725 · Cited by 16
Briercheck, E. L., Ravishankar, S., Ahmed, E. H., Alvarado, C. C. C., Barrios-Menéndez, J. C., Silva, O., Solórzano, E., Tala, M. M. S., Stevenson, P. A., Xu, Y., et al. (2024) · Blood Advances · doi:10.1182/bloodadvances.2023012461 · Cited by 14
Uguen, K., Michaud, J. L., & Génin, E. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01666-z · Cited by 14
Bellos, E., Santillo, D., Vantourout, P., Jackson, H., Duret, A., Hearn, H., Seeleuthner, Y., Talouarn, E., Hodeib, S., Patel, H., et al. (2024) · The Journal of Experimental Medicine · doi:10.1084/jem.20240699 · Cited by 14
Adaptations to water stress and pastoralism in the Turkana of northwest Kenya
Lea, A. J., Caldas, I. V., Garske, K. M., Gerlinger, E. R., Arroyo, J. P., John, E., Gurven, M., Handley, C., Kahumbu, J. C., Kamau, J., et al. (2025) · Science · doi:10.1126/science.adv2467 · Cited by 14
West Asian sources of the Eurasian component in Ethiopians: a reassessment
Molinaro, L., Montinaro, F., Yelmen, B., Marnetto, D., Behar, D. M., Kivisild, T., & Pagani, L. (2019) · Scientific Reports · doi:10.1038/s41598-019-55344-y · Cited by 14
Self-citationDevelopments in coalescent theory from single loci to chromosomes
Wakeley, J. (2020) · Theoretical Population Biology · doi:10.1016/j.tpb.2020.02.002 · Cited by 14
Insights on hair, skin and eye color of ancient and contemporary Native Americans
Carratto, T. M. T., Marcorin, L., Debortoli, G., Hünemeier, T., Norton, H., Parra, E. J., Castelli, E. C., & Mendes‐Junior, C. T. (2020) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2020.102335 · Cited by 14
Liu, Y., Wang, M., Chen, P., Wang, Z., Liu, J., Yao, L., Wang, F., Tang, R., Zou, X., & He, G. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.582357 · Cited by 14
Adachi, N., Kanzawa‐Kiriyama, H., Nara, T., Kakuda, T., Nishida, I., & Shinoda, K. (2021) · Anthropological Science · doi:10.1537/ase.2012132 · Cited by 13
African Global Representation in Biomedical Sciences
Mulder, N., Zass, L. J., Hamdi, Y., Othman, H., Panji, S., Allali, I., & Fakim, Y. J. (2021) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-102920-112550 · Cited by 17
Saitou, M., Masuda, N., & Gökçümen, Ö. (2021) · Molecular Biology and Evolution · doi:10.1093/molbev/msab313 · Cited by 18
Unveiling the Genetic History of the Maniq, a Primary Hunter-Gatherer Society
Göllner, T., Larena, M., Kutanan, W., Lukas, H., Fieder, M., & Schaschl, H. (2022) · Genome Biology and Evolution · doi:10.1093/gbe/evac021 · Cited by 15
Metadata
- Authors
- Mallick, S., Li, H., Lipson, M., Mathieson, I., Gymrek, M., Racimo, F., Zhao, M., Chennagiri, N., Nordenfelt, S., Tandon, A., Skoglund, P., Lazaridis, I., Sankararaman, S., Fu, Q., Rohland, N., Renaud, G., Erlich, Y., Willems, T., Gallo, C., Spence, J. P., Song, Y. S., Poletti, G., Balloux, F., van Driem, G., de Knijff, P., Romero, I. G., Jha, A. R., Behar, D. M., Bravi, C. M., Capelli, C., Hervig, T., Moreno-Estrada, A., Posukh, O. L., Balanovska, E., Balanovsky, O., Karachanak-Yankova, S., Sahakyan, H., Toncheva, D., Yepiskoposyan, L., Tyler-Smith, C., Xue, Y., Abdullah, M. S., Ruiz-Linares, A., Beall, C. M., Di Rienzo, A., Jeong, C., Starikovskaya, E. B., Metspalu, E., Parik, J., Villems, R., Henn, B. M., Hodoglugil, U., Mahley, R., Sajantila, A., Stamatoyannopoulos, G., Wee, J. T. S., Khusainova, R., Khusnutdinova, E., Litvinov, S., Ayodo, G., Comas, D., Hammer, M. F., Kivisild, T., Klitz, W., Winkler, C. A., Labuda, D., Bamshad, M., Jorde, L. B., Tishkoff, S. A., Watkins, W. S., Metspalu, M., Dryomov, S., Sukernik, R., Singh, L., Thangaraj, K., Pääbo, S., Kelso, J., Patterson, N., & Reich, D.
- Affiliations
- Broad Institute (US)
- Harvard University (US)
- University of California, Berkeley (US)
- Max Planck Institute for Evolutionary Anthropology (DE)
- New York Genome Center (US)
- Universidad Peruana Cayetano Heredia (PE)
- University of Pennsylvania (US)
- Nanyang Technological University (SG)
- University of Chicago (US)
- Estonian Biocentre (EE)
- University of Oxford (GB)
- University of Bergen (NO)
- Russian Academy of Sciences (RU)
- Research Centre for Medical Genetics (RU)
- Moscow Institute of Physics and Technology (RU)
- Medical University of Sofia (BG)
- Institute of Molecular Biology (AM)
- Wellcome Sanger Institute (GB)
- Raja Isteri Pengiran Anak Saleha Hospital (BN)
- Case Western Reserve University (US)
- Estonian Academy of Sciences (EE)
- Stony Brook University (US)
- Gladstone Institutes (US)
- University of Helsinki (FI)
- University of Washington (US)
- National Cancer Centre Singapore (SG)
- Jaramogi Oginga Odinga University of Science and Technology (KE)
- Universitat Pompeu Fabra (ES)
- University of Arizona (US)
- University of Cambridge (GB)
- Frederick National Laboratory for Cancer Research (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- University of Utah (US)
- Centre for Cellular and Molecular Biology (IN)
- Corresponding author
- Mallick, Swapan
- Reich, David
- ORCID
- Mallick, Swapan
- Li, Heng
- Lipson, Mark
- Mathieson, Iain
- Gymrek, Melissa
- Racimo, Fernando
- Zhao, Mengyao
- Skoglund, Pontus
- Lazaridis, Iosif
- Sankararaman, Sriram
- Fu, Qiaomei
- Rohland, Nadin
- Renaud, Gabriel
- Erlich, Yaniv
- Willems, Thomas
- Gallo, Carla
- Spence, Jeffrey P.
- Song, Yun S.
- Poletti, Giovanni
- Romero, Irene Gallego
- Jha, Aashish R.
- Behar, Doron M.
- Capelli, Cristian
- Hervig, Tor
- Posukh, Olga L.
- Balanovska, Elena
- Karachanak-Yankova, Sena
- Sahakyan, Hovhannes
- Toncheva, Draga
- Yepiskoposyan, Levon
- Abdullah, M. Syafiq
- Beall, Cynthia M.
- Jeong, Choongwon
- Starikovskaya, Elena B.
- Metspalu, Ene
- Villems, Richard
- Henn, Brenna M.
- Mahley, Robert
- Sajantila, Antti
- Wee, Joseph T. S.
- Khusainova, Rita
- Litvinov, Sergey
- Ayodo, George
- Comas, David
- Hammer, Michael F.
- Kivisild, Toomas
- Winkler, Cheryl A.
- Labuda, Damian
- Bamshad, Michael
- Jorde, Lynn B.
- Tishkoff, Sarah A.
- Watkins, W. Scott
- Metspalu, Mait
- Sukernik, Rem
- Singh, Lalji
- Pääbo, Svante
- Kelso, Janet
- Patterson, Nick
- Reich, David
- Venue
- Nature
- Published
- 2016-09-21
- Volume
- 538
- Issue
- 7624
- Pages
- 201-206
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5161557
- OpenAlex
- W2522993044
- Cited by
- 1,584
- References
- 47
- Citations by year
- 2026: 100 · 2025: 187 · 2024: 188 · 2023: 155 · 2022: 189 · 2021: 179 · 2020: 173 · 2019: 152 · 2018: 142 · 2017: 104 · 2016: 10
- FWCI
- 109.87
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Universidad Peruana Cayetano Heredia Institutional Repository (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (acceptedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (acceptedVersion, other-oa)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, cc-by-nc-sa)
- eScholarship (California Digital Library) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Max Planck Digital Library (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion)
- CONICET Digital (CONICET) (submittedVersion, cc-by-nc-sa)
- RUNE (Research UNE) (submittedVersion)
- Seoul National University Open Repository (Seoul National University) (submittedVersion)
- Funders
- National Science Foundation (1153911, 0924726, 02543, 1032255)
- Wellcome Trust (098051)
- Simons Foundation Autism Research Initiative
- European Commission (15,16, 28,29)
- Russian Foundation for Basic Research (16-06-00364, 16-06-00303)
- Eesti Teadusagentuur (IUT24-1, IUT2-4)
- Max-Planck-Gesellschaft
- Vetenskapsrådet (16,17, 02543, 2014-453)
- Tartu Ülikool
- National Institutes of Health (5ul1tr001067-05, 16,17, 10,11, GM100233)
- Biotechnology and Biological Sciences Research Council (BB/H008802/1, BB/H008802/2)
- European Regional Development Fund (IUT24-1)
- National Human Genome Research Institute (R01HG006399)
- National Institute of General Medical Sciences (R01GM113657, R01GM059290, R01GM100233, R00GM111744, R01GM094402)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK104339)
- National Institute of Environmental Health Sciences (DP1ES022577)
- National Center for Advancing Translational Sciences (UL1-TR001067)
- FP7 Ideas: European Research Council (261213)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- human genetic variation, dispersal out of Africa, human ancestry, mutation rate, African populations, Aboriginal Australians, Papuans, Andamanese, Indigenous Australians, non-African populations
- MeSH terms
- Animals, Australia, Genetics, Population, Humans, New Guinea, Phylogeny, Species Specificity, Time Factors, Genetic Variation, Genome, Human, Sequence Analysis, DNA, Genomics, Black People, Native Hawaiian or Other Pacific Islander, Racial Groups, History, Ancient, Neanderthals, Mutation Rate, Human Migration, Datasets as Topic
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
