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 401–500 of 1,002
A manifesto for palaeodemography in the twenty-first century
French, J. C., Riris, P., de Pablo, J. F., Lozano, S., & Silva, F. (2020) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2019.0707 · Cited by 40
Lazaridis, I., Alpaslan-Roodenberg, S., Acar, A., Açıkkol, A., Agelarakis, A. P., Aghikyan, L., Akyüz, U., Andreeva, D., Andrijašević, G., Antonović, D., et al. (2022) · Science · doi:10.1126/science.abq0762 · Cited by 47
Self-citationHigh-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry
Wang, K., Prüfer, K., Krause‐Kyora, B., Childebayeva, A., Schuenemann, V. J., Coia, V., Maixner, F., Zink, A., Schiffels, S., & Krause, J. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100377 · Cited by 41
Diverse African genomes reveal selection on ancient modern human introgressions in Neanderthals
Harris, D., Platt, A., Hansen, M. E. B., Fan, S., McQuillan, M. A., Nyambo, T., Mpoloka, S. W., Mokone, G. G., Belay, G., Fokunang, C., et al. (2023) · Current Biology · doi:10.1016/j.cub.2023.09.066 · Cited by 42
Self-citationYew, C.-W., Lu, D., Deng, L., Wong, L.-P., Ong, R. T., Lü, Y., Wang, X., Yunus, Y., Aghakhanian, F. F., Mokhtar, S. S., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1869-0 · Cited by 43
Zhang, C., Gao, Y., Ning, Z., Lü, Y., Zhang, X., Liu, J., Xie, B., Xue, Z., Wang, X., Yuan, K., et al. (2019) · Genome biology · doi:10.1186/s13059-019-1838-5 · Cited by 41
Prospective avenues for human population genomics and disease mapping in southern Africa
Swart, Y., van Eeden, G., Sparks, A., Uren, C., & Möller, M. (2020) · Molecular Genetics and Genomics · doi:10.1007/s00438-020-01684-8 · Cited by 40
Living in an adaptive world: Genomic dissection of the genus Homo and its immune response
Quach, H., & Quintana‐Murci, L. (2017) · The Journal of Experimental Medicine · doi:10.1084/jem.20161942 · Cited by 42
Sazzini, M., Abondio, P., Sarno, S., Gnecchi‐Ruscone, G. A., Ragno, M., Giuliani, C., Fanti, S. D., Ojeda‐Granados, C., Boattini, A., Marquis, J., et al. (2020) · BMC Biology · doi:10.1186/s12915-020-00778-4 · Cited by 40
Kawai, Y., Watanabe, Y., Omae, Y., Miyahara, R., Khor, S., Noiri, E., Kitajima, K., Shimanuki, H., Gatanaga, H., Hata, K., et al. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010625 · Cited by 38
Conservation Genetics of the Cheetah: Lessons Learned and New Opportunities
O’Brien, S. J., Johnson, W. E., Driscoll, C. A., Dobrynin, P. V., & Marker, L. L. (2017) · Journal of Heredity · doi:10.1093/jhered/esx047 · Cited by 37
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
Easteal, S., Arkell, R. M., Balboa, R. F., Bellingham, S. A., Brown, A. D. H., Calma, T., Cook, M., Davis, M., Dawkins, H. J. S., Dinger, M. E., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.005 · Cited by 40
Signatures of Introgression across the Allele Frequency Spectrum
Martin, S. H., & Amos, W. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa239 · Cited by 39
de la Puente, M., Ruiz-Ramírez, J., Ambroa-Conde, A., Xavier, C., Amigo, J., Cal, M. Á. C. D., Gómez‐Tato, A., Carracedo, Á., Parson, W., Phillips, C., et al. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.581041 · Cited by 38
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations
da Rocha, J., Othman, H., Botha, G., Cottino, L., Twesigomwe, D., Ahmed, S., Drögemöller, B. I., Fadlelmola, F. M., Machanick, P., Mbiyavanga, M., et al. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.634016 · Cited by 39
The Impact of Ancient Genome Studies in Archaeology
Gökçümen, Ö., & Frachetti, M. D. (2020) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-010220-074353 · Cited by 40
hapCon: estimating contamination of ancient genomes by copying from reference haplotypes
Huang, Y., & Ringbauer, H. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac390 · Cited by 39
Genetic population structure of the Xiongnu Empire at imperial and local scales
Lee, J., Miller, B. K., Bayarsaikhan, J., Johannesson, E., Miller, A. V., Warinner, C., & Jeong, C. (2023) · Science Advances · doi:10.1126/sciadv.adf3904 · Cited by 39
Self-citationFemale lineages and changing kinship patterns in Neolithic Çatalhöyük
Yüncü, E., Doğu, A. K., Kaptan, D., Kılıç, M. S., Mazzucato, C., Güler, M. N., Eker, E., Katırcıoğlu, B., Chyleński, M., Vural, K. B., et al. (2025) · Science · doi:10.1126/science.adr2915 · Cited by 41
Luo, X., He, Y., Zhang, C., He, X., Yan, L., Li, M., Hu, T., Hu, Y., Jiang, J., Meng, X., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13481-y · Cited by 36
Patterns of African and Asian admixture in the Afrikaner population of South Africa
Hollfelder, N., Erasmus, J. C., Hammarén, R., Vicente, M., Jakobsson, M., Greeff, J. M., & Schlebusch, C. M. (2020) · BMC Biology · doi:10.1186/s12915-020-0746-1 · Cited by 38
Rasekh, M. E., Hernandez, Y. A., Drinan, S. D., Bass, J. I. F., & Benson, G. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab224 · Cited by 37
Evidence of the interplay of genetics and culture in Ethiopia
López, S., Tarekegn, A., Band, G., van Dorp, L., Bird, N., Morris, S., Oljira, T., Mekonnen, E., Bekele, E., Blench, R. M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23712-w · Cited by 43
The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
Kaja, E., Lejman, A., Sielski, D., Sypniewski, M., Gambin, T., Dawidziuk, M., Suchocki, T., Golik, P., Wojtaszewska, M. L., Mroczek, M., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23094532 · Cited by 38
Paleolithic DNA from the Caucasus reveals core of West Eurasian ancestryPreprint
Lazaridis, I., Belfer‐Cohen, A., Mallick, S., Patterson, N. J., Cheronet, O., Rohland, N., Bar‐Oz, G., Bar‐Yosef, O., Jakeli, N., Kvavadze, E., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/423079 · Cited by 39
Self-citationReconstructing genetic histories and social organisation in Neolithic and Bronze Age Croatia
Freilich, S., Ringbauer, H., Los, D., Novak, M., Pavičić, D. T., Schiffels, S., & Pinhasi, R. (2021) · Scientific Reports · doi:10.1038/s41598-021-94932-9 · Cited by 39
Meneganzin, A., Pievani, T., & Manzi, G. (2022) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/evan.21955 · Cited by 37
Disease-causing human viruses: novelty and legacy
Forni, D., Cagliani, R., Clerici, M., & Sironi, M. (2022) · Trends in Microbiology · doi:10.1016/j.tim.2022.07.002 · Cited by 39
Tracing Bai-Yue Ancestry in Aboriginal Li People on Hainan Island
Chen, H., Lin, R., Lü, Y., Zhang, R., Gao, Y., He, Y., & Xu, S. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac210 · Cited by 32
Simon, A., & Coop, G. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2312377121 · Cited by 40
50,000 years of evolutionary history of India: Impact on health and disease variation
Kerdoncuff, E., Skov, L., Patterson, N., Banerjee, J., Khobragade, P., Chakrabarti, S. S., Chakrawarty, A., Chatterjee, P., Dhar, M., Gupta, M., et al. (2025) · Cell · doi:10.1016/j.cell.2025.04.027 · Cited by 36
Self-citationSun, J., Li, Y., Ma, P., Yan, S. L., Cheng, H., Fan, Z., Deng, X., Ru, K., Wang, C., Chen, G., et al. (2021) · American Journal of Physical Anthropology · doi:10.1002/ajpa.24240 · Cited by 34
Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool
de la Puente, M., Ruiz-Ramírez, J., Ambroa-Conde, A., Xavier, C., Pardo‐Seco, J., Álvarez‐Dios, J. A., Freire-Aradas, A., Mosquera‐Miguel, A., Gross, T. E., Cheung, E. Y. Y., et al. (2021) · Genes · doi:10.3390/genes12081284 · Cited by 37
Privé, F. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac348 · Cited by 33
Batini, C., Hallast, P., Vågene, Å. J., Zadik, D., Eriksen, H. A., Pamjav, H., Sajantila, A., Wetton, J. H., & Jobling, M. A. (2017) · Scientific Reports · doi:10.1038/s41598-017-11307-9 · Cited by 34
Self-citationFrom Summary Statistics to Gene Trees: Methods for Inferring Positive Selection
Hejase, H. A., Dukler, N., & Siepel, A. C. (2020) · Trends in Genetics · doi:10.1016/j.tig.2019.12.008 · Cited by 36
Zhang, X., Kim, B., Lohmueller, K. E., & Huerta-Sánchez, E. (2020) · Genetics · doi:10.1534/genetics.120.303081 · Cited by 35
A Southeast Asian origin for present-day non-African human Y chromosomes
Hallast, P., Agdzhoyan, A., Balanovsky, O. P., Xue, Y., & Tyler‐Smith, C. (2020) · Human Genetics · doi:10.1007/s00439-020-02204-9 · Cited by 36
Self-citationEvolutionary and medical consequences of archaic introgression into modern human genomes
Dolgova, O., & Lao, O. (2018) · Genes · doi:10.3390/genes9070358 · Cited by 34
Mutational Signatures: From Methods to Mechanisms
Kim, Y.-A., Leiserson, M. D. M., Moorjani, P., Sharan, R., Wójtowicz, D., & Przytycka, T. M. (2021) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-122320-120920 · Cited by 34
The Persian plateau served as hub for Homo sapiens after the main out of Africa dispersal
Vallini, L., Zampieri, C., Shoaee, M. J., Bortolini, E., Marciani, G., Aneli, S., Pievani, T., Benazzi, S., Barausse, A., Mezzavilla, M., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46161-7 · Cited by 41
Continental influx and pervasive matrilocality in Iron Age Britain
Cassidy, L. M., Russell, M., Smith, M. J., Delbarre, G., Cheetham, P., Manley, H., Mattiangeli, V., Breslin, E. M., Jackson, I., McCann, M., et al. (2025) · Nature · doi:10.1038/s41586-024-08409-6 · Cited by 42
Prehistoric genomes from Yunnan reveal ancestry related to Tibetans and Austroasiatic speakers
Wang, T., Yang, M. A., Zhu, Z., Ma, M., Shi, H., Speidel, L., Min, R., Yuan, H., Jiang, Z., Hu, C., et al. (2025) · Science · doi:10.1126/science.adq9792 · Cited by 35
Self-citationViehberg, F., Just, J., Dean, J. R., Wagner, B., Franz, S. O., Klasen, N., Kleinen, T., Ludwig, P., Asrat, A., Lamb, H. F., et al. (2018) · Quaternary Science Reviews · doi:10.1016/j.quascirev.2018.09.008 · Cited by 38
Gulko, B., & Siepel, A. C. (2018) · Nature Genetics · doi:10.1038/s41588-018-0300-z · Cited by 32
Dynamic Copy Number Evolution of X- and Y-Linked Ampliconic Genes in Human Populations
Lucotte, E. A., Skov, L., Jensen, J. M., Macià, M. C., Munch, K., & Schierup, M. H. (2018) · Genetics · doi:10.1534/genetics.118.300826 · Cited by 36
Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India
Harney, É., Nayak, A., Patterson, N. J., Joglekar, P. P., Mushrif‐Tripathy, V., Mallick, S., Rohland, N., Sedig, J. W., Adamski, N., Bernardos, R. L., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11357-9 · Cited by 34
Self-citationThe paternal and maternal genetic history of Vietnamese populations
Macholdt, E., Arias, L., Dương, N. T., Tôn, N. Đ., Phòng, N. V., Schröder, R., Pakendorf, B., Hải, N. V., & Stoneking, M. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0557-4 · Cited by 33
Limited evidence for selection at the FADS locus in Native American populations
Mathieson, I. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa064 · Cited by 34
Self-citationFactor analysis of ancient population genomic samples
François, O., Liégeois, S., Demaille, B., & Jay, F. (2020) · Nature Communications · doi:10.1038/s41467-020-18335-6 · Cited by 35
Böck, J., Krogsaeter, E., Passon, M., Chao, Y., Sharma, S., Grallert, H., Peters, A., & Grimm, C. M. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009236 · Cited by 33
A geometric relationship of F 2, F 3 and F 4-statistics with principal component analysis
Peter, B. M. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0413 · Cited by 36
Lithic raw material acquisition and use by early Homo sapiens at Skhul, Israel
Ekshtain, R., & Tryon, C. A. (2019) · Journal of Human Evolution · doi:10.1016/j.jhevol.2018.10.005 · Cited by 37
The Genomic Formation of Human Populations in East AsiaPreprint
Wang, C., Yeh, H., Popov, А. N., Zhang, H., Matsumura, H., Sirak, K. A., Cheronet, O., Kovalev, A., Rohland, N., Kim, A. M., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.03.25.004606 · Cited by 35
Self-citationNatri, H. M., Hudjashov, G., Jacobs, G., Kusuma, P., Saag, L., Darusallam, C. C., Metspalu, M., Sudoyo, H., Cox, M. P., Gallego Romero, I., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.11.017 · Cited by 33
Self-citationBrace, S., Diekmann, Y., Booth, T., Macleod, R., Timpson, A., Stephen, W., Emery, G., Cabot, S., Thomas, M., & Barnes, I. (2022) · Current Biology · doi:10.1016/j.cub.2022.08.036 · Cited by 35
Insights into the domestication of avocado and potential genetic contributors to heterodichogamy
Solares, E., Morales‐Cruz, A., Figueroa-Balderas, R. E., Focht, E., Ashworth, V., Wyant, S. R., Minio, A., Cantù, D., Arpaia, M. L., & Gaut, B. S. (2022) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkac323 · Cited by 33
Ruiz-Ramírez, J., de la Puente, M., Xavier, C., Ambroa-Conde, A., Álvarez-Dios, J., Freire-Aradas, A., Mosquera‐Miguel, A., Ralf, A., Amory, C., Katsara, M., et al. (2023) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2023.102853 · Cited by 33
Chyleński, M., Makarowicz, P., Juras, A., Krzewińska, M., Pospieszny, Ł., Ehler, E., Breszka, A., Górski, J., Taras, H., Szczepanek, A., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40072-9 · Cited by 36
The landscape of human SVA retrotransposons
Chu, C., Lin, E. W., Tran, A. V., Jin, H., Ho, N. I., Veit, A. D., Cortés‐Ciriano, I., Burns, K. H., Ting, D. T., & Park, P. J. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad821 · Cited by 33
Population structure and infectious disease risk in southern Africa
Uren, C., Möller, M., van Helden, P. D., Henn, B. M., & Hoal, E. G. (2017) · Molecular Genetics and Genomics · doi:10.1007/s00438-017-1296-2 · Cited by 33
Self-citationColl Macià, M., Skov, L., Peter, B. M., & Schierup, M. H. (2021) · Nature Communications · doi:10.1038/s41467-021-25524-4 · Cited by 33
Andersen, M. K., Skotte, L., Jørsboe, E., Polito, R., Stæger, F. F., Aldiss, P., Hanghøj, K., Waples, R. K., Santander, C. G., Grarup, N., et al. (2021) · Gastroenterology · doi:10.1053/j.gastro.2021.12.236 · Cited by 35
Huang, Y.-F., & Siepel, A. C. (2019) · Genome Research · doi:10.1101/gr.245522.118 · Cited by 34
South Asia: The Missing Diverse in Diversity
Dokuru, D. R., Horwitz, T. B., Freis, S. M., Stallings, M. C., & Ehringer, M. A. (2023) · Behavior Genetics · doi:10.1007/s10519-023-10161-y · Cited by 41
Hammond, A. S., Royer, D., & Fleagle, J. G. (2017) · Journal of Human Evolution · doi:10.1016/j.jhevol.2017.04.004 · Cited by 34
Tai-Kadai-speaking Gelao population: Forensic features, genetic diversity and population structure
He, G., Wang, Z., Zou, X., Wang, M., Liu, J., Wang, S., Ye, Z., Chen, P., & Hou, Y. (2019) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2019.03.013 · Cited by 30
Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism
Fumagalli, M., Camus, S. M., Diekmann, Y., Burke, A., Camus, M. D., Norman, P. J., Joseph, A. P., Abi‐Rached, L., Benazzo, A., Rasteiro, R., et al. (2019) · eLife · doi:10.7554/elife.41517 · Cited by 30
Self-citationThe Simons Genome Diversity Project: A Global Analysis of Mobile Element Diversity
Watkins, W. S., Feusier, J. E., Thomas, J., Goubert, C., Mallick, S., & Jorde, L. B. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa086 · Cited by 32
Self-citationOur Tangled Family Tree: New Genomic Methods Offer Insight into the Legacy of Archaic Admixture
Ahlquist, K. D., Bañuelos, M. M., Funk, A., Lai, J., Rong, S., Villanea, F. A., & Witt, K. E. (2021) · Genome Biology and Evolution · doi:10.1093/gbe/evab115 · Cited by 36
Behavioural modernity, investigative disintegration & Rubicon expectation
Meneganzin, A., & Currie, A. (2022) · Synthese · doi:10.1007/s11229-022-03491-7 · Cited by 33
Evolution of local mutation rate and its determinants
Terekhanova, N. V., Seplyarskiy, V. B., Soldatov, R., & Bazykin, G. A. (2017) · Molecular Biology and Evolution · doi:10.1093/molbev/msx060 · Cited by 30
Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation
Martin-Trujillo, A., Garg, P., Patel, N., Jadhav, B., & Sharp, A. J. (2023) · Genome Research · doi:10.1101/gr.277057.122 · Cited by 28
Ancient DNA reveals reproductive barrier despite shared Avar-period culture
Wang, K., Tóbiás, B., Pany‐Kucera, D., Berner, M. E., Eggers, S., Gnecchi‐Ruscone, G. A., Zlámalová, D., Gretzinger, J., Ingrová, P., Rohrlach, A. B., et al. (2025) · Nature · doi:10.1038/s41586-024-08418-5 · Cited by 37
The demographic and adaptive history of central African hunter-gatherers and farmers
Patin, É., & Quintana‐Murci, L. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.07.008 · Cited by 37
Discovery of Novel Sequences in 1,000 Swedish Genomes
Eisfeldt, J., Mårtensson, G., Ameur, A., Nilsson, D., & Lindstrand, A. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz176 · Cited by 31
Nebula: ultra-efficient mapping-free structural variant genotyper
Khorsand, P., & Hormozdiari, F. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab025 · Cited by 30
Genome of Peştera Muierii skull shows high diversity and low mutational load in pre-glacial Europe
Svensson, E., Günther, T., Hoischen, A., Hervella, M., Munters, A. R., Ioana, M. I., Ridiche, F., Edlund, H., van Deuren, R. C., Soficaru, A., et al. (2021) · Current Biology · doi:10.1016/j.cub.2021.04.045 · Cited by 32
Ramensky, V. E., Ershova, A. I., Zaicenoka, M., Kiseleva, A. V., Zharikova, A. A., Vyatkin, Y. V., Сотникова, Е. А., Efimova, I. A., Дивашук, М. Г., Kurilova, O. V., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.709419 · Cited by 35
Population and clinical genetics of human transposable elements in the (post) genomic era
Rishishwar, L., Wang, L., Clayton, E. A., Mariño‐Ramírez, L., McDonald, J. F., & Jordan, I. K. (2017) · Mobile Genetic Elements · doi:10.1080/2159256x.2017.1280116 · Cited by 33
Population Replacement in Early Neolithic BritainPreprint
Brace, S., Diekmann, Y., Booth, T. J., Faltyskova, Z., Rohland, N., Mallick, S., Ferry, M., Michel, M., Oppenheimer, J., Broomandkhoshbacht, N., et al. (2018) · bioRxiv · doi:10.1101/267443 · Cited by 35
Self-citationFan, W., Xu, L., Cheng, H., Li, M., Liu, H., Jiang, Y. Q., Guo, Y., Zhou, Z., & Hou, S. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00520 · Cited by 31
The importance of gene flow in human evolution
Templeton, A. R. (2023) · Human Population Genetics and Genomics · doi:10.47248/hpgg2303030005 · Cited by 30
Feng, Y., Xie, N., Inoue, F., Fan, S., Saskin, J., Zhang, C., Zhang, F., Hansen, M. E. B., Nyambo, T., Mpoloka, S. W., et al. (2024) · Nature Genetics · doi:10.1038/s41588-023-01626-1 · Cited by 33
Self-citationPaternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences
Wei, L., Wang, L.-X., Wen, S., Yan, S. L., Canada, R., Gurianov, V., Huang, Y., Mallick, S., Biondo, A., O’Leary, A., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0211-6 · Cited by 31
Self-citationWorldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans
Luo, S., Yu, J. A., Li, H., & Song, Y. S. (2019) · Life Science Alliance · doi:10.26508/lsa.201800221 · Cited by 29
Self-citationKutanan, W., Shoocongdej, R., Srikummool, M., Hübner, A., Suttipai, T., Srithawong, S., Kampuansai, J., & Stoneking, M. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0693-x · Cited by 34
Yu, X.-E., & Li, H. (2021) · Molecular Genetics and Genomics · doi:10.1007/s00438-021-01794-x · Cited by 31
Self-citationThe Tibetan-Yi region is both a corridor and a barrier for human gene flow
Zhang, Z., Zhang, Y., Wang, Y., Zhao, Z., Yang, M. A., Zhang, L., Zhou, B., Xu, B., Zhang, H., Chen, T., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110720 · Cited by 30
Opportunities and challenges for the use of common controls in sequencing studies
Wojcik, G. L., Murphy, J. I., Edelson, J. L., Gignoux, C. R., Ioannidis, A. G., Manning, A. K., Rivas, M. A., Buyske, S. G., & Hendricks, A. E. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00487-4 · Cited by 32
Xavier, C., de la Puente, M., Mosquera-Miguel, A., Freire-Aradas, A., Kalamara, V., Ralf, A., Revoir, A., Gross, T., Schneider, P. M., Ames, C., et al. (2022) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2022.102779 · Cited by 29
Lea, A. J., García, A. R., Arevalo, J. M. G., Ayroles, J. F., Buetow, K. H., Cole, S. W., Rodríguez, D. E., Cayuba, M. G., Highland, H. M., Hooper, P. L., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2207544120 · Cited by 29
Nemat‐Gorgani, N., Hilton, H. G., Henn, B. M., Lin, M. H., Gignoux, C. R., Myrick, J. W., Werely, C. J., Granka, J. M., Möller, M., Hoal, E. G., et al. (2018) · The Journal of Immunology · doi:10.4049/jimmunol.1701780 · Cited by 29
Self-citationTucci, S., & Akey, J. M. (2016) · Nature · doi:10.1038/nature19472 · Cited by 29
Allelic bias when performing in‐solution enrichment of ancient human DNA
Davidson, R., Williams, M. P., Roca‐Rada, X., Kassadjikova, K., Tobler, R., Fehren‐Schmitz, L., & Llamas, B. (2023) · Molecular Ecology Resources · doi:10.1111/1755-0998.13869 · Cited by 31
Gouveia, M. H., Bergen, A. W., Borda, V., Nunes, K., Leal, T. P., Ogwang, M. D., Yeboah, E. D., Mensah, J. E., Kinyera, T., Otim, I. O., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008027 · Cited by 29
Self-citationLandini, A., Yu, S., Gnecchi‐Ruscone, G. A., Abondio, P., Ojeda‐Granados, C., Sarno, S., Fanti, S. D., Gentilini, D., Blasio, A. M. D., Jin, H., et al. (2020) · Evolutionary Applications · doi:10.1111/eva.13090 · Cited by 33
Population structure of indigenous inhabitants of Arabia
Mineta, K., Goto, K., Gojobori, T., & Alkuraya, F. S. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009210 · Cited by 30
Balancing selection on genomic deletion polymorphisms in humans
Aqil, A., Speidel, L., Pavlidis, P., & Gökçümen, Ö. (2023) · eLife · doi:10.7554/elife.79111 · Cited by 30
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
