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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Using Mbuti as an outgroup, the S prime statistic detected SLC30A9 as a candidate for introgression in both Europeans and East Asian samples from HGDP-CEPH.
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 12,898 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Li, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr509 · Cited by 6,283 · see citing works
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works
Self-citationBayesian Coalescent Inference of Past Population Dynamics from Molecular Sequences
Drummond, A. J. (2005) · Molecular Biology and Evolution · doi:10.1093/molbev/msi103 · Cited by 3,094 · see citing works
Genetic Structure of Human Populations
Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kídd, K. K., Анатольевич, Ж. Л., & Feldman, M. W. (2002) · Science · doi:10.1126/science.1078311 · Cited by 3,000 · see citing works
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 · see citing works
Self-citationpegas: an R package for population genetics with an integrated–modular approach
Paradis, E. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp696 · Cited by 2,601 · see citing works
Inference of human population history from individual whole-genome sequences
Li, H., & Durbin, R. (2011) · Nature · doi:10.1038/nature10231 · Cited by 2,590 · see citing works
Self-citationThe complete genome sequence of a Neanderthal from the Altai Mountains
Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P. H., de Filippo, C., et al. (2014) · Nature · doi:10.1038/nature12886 · Cited by 2,254 · see citing works
Self-citationGenetic history of an archaic hominin group from Denisova Cave in Siberia
Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., Viola, B., Briggs, A. W., Stenzel, U., Johnson, P. L. F., et al. (2010) · Nature · doi:10.1038/nature09710 · Cited by 1,991 · see citing works
Self-citationA high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967 · see citing works
Self-citationWorldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,947 · see citing works
Self-citationMassive migration from the steppe was a source for Indo-European languages in Europe
Haak, W., Lazaridis, I., Patterson, N., Rohland, N., Mallick, S., Llamas, B., Brandt, G., Nordenfelt, S., Harney, E., Stewardson, K., et al. (2015) · Nature · doi:10.1038/nature14317 · Cited by 1,940 · see citing works
Self-citationThe Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Mallick, S., Li, H., Lipson, M., Mathieson, I., Gymrek, M., Racimo, F., Zhao, M., Chennagiri, N., Nordenfelt, S., Tandon, A., et al. (2016) · Nature · doi:10.1038/nature18964 · Cited by 1,584 · see citing works
Self-citationAncient human genomes suggest three ancestral populations for present-day Europeans
Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., et al. (2014) · Nature · doi:10.1038/nature13673 · Cited by 1,357 · see citing works
Self-citationGenotype Imputation with Millions of Reference Samples
Browning, B. L., & Browning, S. R. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.020 · Cited by 1,149 · see citing works
The genomic landscape of Neanderthal ancestry in present-day humans
Sankararaman, S., Mallick, S., Dannemann, M., Prüfer, K., Kelso, J., Pääbo, S., Patterson, N., & Reich, D. (2014) · Nature · doi:10.1038/nature12961 · Cited by 1,107 · see citing works
Self-citationInferring human population size and separation history from multiple genome sequences
Schiffels, S., & Durbin, R. M. (2014) · Nature Genetics · doi:10.1038/ng.3015 · Cited by 1,051 · see citing works
Self-citationGenome sequence of a 45,000-year-old modern human from western Siberia
Fu, Q., Li, H., Moorjani, P., Jay, F., Slepchenko, S. M., Bondarev, A. A., Johnson, P. L. F., Aximu-Petri, A., Prüfer, K., de Filippo, C., et al. (2014) · Nature · doi:10.1038/nature13810 · Cited by 1,023 · see citing works
Self-citationA Human Genome Diversity Cell Line Panel
Cann, H. M., de Toma, C., Cazes, L., Legrand, M.-F., Morel, V., Piouffre, L., Bodmer, J. G., Bodmer, W. F., Bonné, B., Cambon‐Thomsen, A., et al. (2002) · Science · doi:10.1126/science.296.5566.261b · Cited by 997 · see citing works
Self-citationBEDOPS: high-performance genomic feature operations
Neph, S. J., Kuehn, M. S., Reynolds, A. P., Haugen, E., Thurman, R. E., Johnson, A., Rynes, E., Maurano, M. T., Vierstra, J. D., Thomas, S., et al. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts277 · Cited by 971 · see citing works
Genomic insights into the origin of farming in the ancient Near East
Lazaridis, I., Nadel, D., Rollefson, G., Merrett, D. C., Rohland, N., Mallick, S., Fernandes, D., Novak, M., Gamarra, B., Sirak, K., et al. (2016) · Nature · doi:10.1038/nature19310 · Cited by 955 · see citing works
Self-citationRobust and scalable inference of population history from hundreds of unphased whole genomes
Terhorst, J., Kamm, J., & Song, Y. S. (2016) · Nature Genetics · doi:10.1038/ng.3748 · Cited by 950 · see citing works
Self-citationToward better understanding of artifacts in variant calling from high-coverage samples
Li, H. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu356 · Cited by 896 · see citing works
Genotype, haplotype and copy-number variation in worldwide human populations
Jakobsson, M., Scholz, S. W., Scheet, P. A., Gibbs, J. R., Canzoniero, J. V., Fung, H., Szpiech, Z. A., Degnan, J. H., Wang, K., Guerreiro, R. J., et al. (2008) · Nature · doi:10.1038/nature06742 · Cited by 871 · see citing works
Self-citationVariation graph toolkit improves read mapping by representing genetic variation in the reference
Garrison, E., Sirén, J., Novak, A. M., Hickey, G., Eizenga, J. M., Dawson, E. T., Jones, W., Garg, S., Markello, C., Lin, M. F., et al. (2018) · Nature Biotechnology · doi:10.1038/nbt.4227 · Cited by 821 · see citing works
Self-citationTracing the peopling of the world through genomics
Nielsen, R., Akey, J. M., Jakobsson, M., Pritchard, J. K., Tishkoff, S., & Willerslev, E. (2017) · Nature · doi:10.1038/nature21347 · Cited by 728 · see citing works
A high-coverage Neandertal genome from Vindija Cave in Croatia
Prüfer, K., de Filippo, C., Grote, S., Mafessoni, F., Korlević, P., Hajdinjak, M., Vernot, B., Skov, L., Hsieh, P., Peyrégne, S., et al. (2017) · Science · doi:10.1126/science.aao1887 · Cited by 719 · see citing works
Self-citationCrossMap: a versatile tool for coordinate conversion between genome assemblies
Zhao, H., Sun, Z., Wang, J., Huang, H., Kocher, J., & Wang, L. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt730 · Cited by 718 · see citing works
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
Zheng, G. X. Y., Lau, B. T., Schnall-Levin, M., Jarosz, M. V., Bell, J., Hindson, C. M., Kyriazopoulou-Panagiotopoulou, S., Masquelier, D. A., Merrill, L., Terry, J. M., et al. (2016) · Nature Biotechnology · doi:10.1038/nbt.3432 · Cited by 678 · see citing works
Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania
Reich, D., Patterson, N., Kircher, M., Delfin, F., Nandineni, M. R., Pugach, I., Ko, A. M.-S., Ko, Y.-C., Jinam, T. A., Phipps, M. E., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.005 · Cited by 656 · see citing works
Self-citationA genomic history of Aboriginal Australia
Malaspinas, A.-S., Westaway, M. C., Muller, C., Sousa, V. C., Lao, O., Alves, I., Bergström, A., Athanasiadis, G., Cheng, J. Y., Crawford, J. E., et al. (2016) · Nature · doi:10.1038/nature18299 · Cited by 650 · see citing works
Self-citationEfficient Coalescent Simulation and Genealogical Analysis for Large Sample Sizes
Kelleher, J., Etheridge, A. M., & McVean, G. (2016) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004842 · Cited by 628 · see citing works
Clines, Clusters, and the Effect of Study Design on the Inference of Human Population Structure
Rosenberg, N. A., Mahajan, S., Ramachandran, S., Zhao, C., Pritchard, J. K., & Feldman, M. W. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010070 · Cited by 570 · see citing works
Resurrecting Surviving Neandertal Lineages from Modern Human Genomes
Vernot, B., & Akey, J. M. (2014) · Science · doi:10.1126/science.1245938 · Cited by 562 · see citing works
Genomic evidence for the Pleistocene and recent population history of Native Americans
Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., Albrechtsen, A., Valdiosera, C., Ávila-Arcos, M. C., Malaspinas, A.-S., et al. (2015) · Science · doi:10.1126/science.aab3884 · Cited by 540 · see citing works
Self-citationKomdeur, J. (1992) · Nature · doi:10.1038/358493a0 · Cited by 535 · see citing works
Fenner, J. N. (2005) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20188 · Cited by 508 · see citing works
mtDNA Variation among Greenland Eskimos: The Edge of the Beringian Expansion
Saillard, J., Forster, P., Lynnerup, N., Bandelt, H., & Nørby, S. (2000) · The American Journal of Human Genetics · doi:10.1086/303038 · Cited by 494 · see citing works
Jun, G., Flickinger, M., Hetrick, K. N., Romm, J. M., Doheny, K. F., Abecasis, G. R., Boehnke, M., & Kang, H. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.09.004 · Cited by 484 · see citing works
Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals
Vernot, B., Tucci, S., Kelso, J., Schraiber, J. G., Wolf, A. B., Gittelman, R. M., Dannemann, M., Grote, S., McCoy, R. C., Norton, H., et al. (2016) · Science · doi:10.1126/science.aad9416 · Cited by 459 · see citing works
Genomic analyses inform on migration events during the peopling of Eurasia
Pagani, L., Lawson, D. J., Jagoda, E., Mörseburg, A., Eriksson, A., Mitt, M., Clemente, F., Hudjashov, G., DeGiorgio, M., Saag, L., et al. (2016) · Nature · doi:10.1038/nature19792 · Cited by 447 · see citing works
Self-citationGenetic evidence for two founding populations of the Americas
Skoglund, P., Mallick, S., Bortolini, M. C., Chennagiri, N., Hünemeier, T., Petzl‐Erler, M. L., Salzano, F. M., Patterson, N. J., & Reich, D. (2015) · Nature · doi:10.1038/nature14895 · Cited by 441 · see citing works
Self-citationReconstructing Prehistoric African Population Structure
Skoglund, P., Thompson, J. C., Prendergast, M. E., Mittnik, A., Sirak, K. A., Hajdinjak, M., Salie, T., Rohland, N., Mallick, S., Peltzer, A., et al. (2017) · Cell · doi:10.1016/j.cell.2017.08.049 · Cited by 410 · see citing works
Self-citationAncient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas
Llamas, B., Fehren‐Schmitz, L., Valverde, G., Soubrier, J., Mallick, S., Rohland, N., Nordenfelt, S., Valdiosera, C. E., Richards, S. M., Rohrlach, A. B., et al. (2016) · Science Advances · doi:10.1126/sciadv.1501385 · Cited by 400 · see citing works
Self-citationDelaneau, O., Marchini, J., McVean, G., Donnelly, P., Lunter, G. A., Marchini, J., Myers, S., Hinch, A. G., Iqbal, Z., Mathieson, I., et al. (2014) · Nature Communications · doi:10.1038/ncomms4934 · Cited by 395 · see citing works
Self-citationLarge multiallelic copy number variations in humans
Handsaker, R. E., Doren, V. V., Berman, J. R., Genovese, G., Kashin, S., Boettger, L. M., & McCarroll, S. A. (2015) · Nature Genetics · doi:10.1038/ng.3200 · Cited by 382 · see citing works
Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan Admixture
Browning, S. R., Browning, B. L., Zhou, Y., Tucci, S., & Akey, J. M. (2018) · Cell · doi:10.1016/j.cell.2018.02.031 · Cited by 381 · see citing works
Browning, S. R., & Browning, B. L. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.012 · Cited by 353 · see citing works
Multiple Deeply Divergent Denisovan Ancestries in Papuans
Jacobs, G. S., Hudjashov, G., Saag, L., Kusuma, P., Darusallam, C. C., Lawson, D. J., Mondal, M., Pagani, L., Ricaut, F.-X., Stoneking, M., et al. (2019) · Cell · doi:10.1016/j.cell.2019.02.035 · Cited by 346 · see citing works
Fast and accurate long-range phasing in a UK Biobank cohort
Loh, P.-R., Palamara, P. F., & Price, A. L. (2016) · Nature Genetics · doi:10.1038/ng.3571 · Cited by 342 · see citing works
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Poznik, G. D., Xue, Y., Mendez, F. L., Willems, T., Massaia, A., Wilson, M. A., Ayub, Q., McCarthy, S., Narechania, A., Kashin, S., et al. (2016) · Nature Genetics · doi:10.1038/ng.3559 · Cited by 318 · see citing works
Self-citationPosth, C., Wißing, C., Kitagawa, K., Pagani, L., van Holstein, L. A., Racimo, F., Wehrberger, K., Conard, N. J., Kind, C.-J., Bocherens, H., et al. (2017) · Nature Communications · doi:10.1038/ncomms16046 · Cited by 311 · see citing works
biobambam: tools for read pair collation based algorithms on BAM files
Tischler, G., & Leonard, S. R. (2014) · Source Code for Biology and Medicine · doi:10.1186/1751-0473-9-13 · Cited by 302 · see citing works
Ancient west Eurasian ancestry in southern and eastern Africa
Pickrell, J. K., Patterson, N., Loh, P.-R., Lipson, M., Berger, B., Stoneking, M., Pakendorf, B., & Reich, D. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1313787111 · Cited by 300 · see citing works
Self-citationSequencing Y Chromosomes Resolves Discrepancy in Time to Common Ancestor of Males Versus Females
Poznik, G. D., Henn, B. M., Yee, M., Śliwerska, E., Euskirchen, G. M., Lin, A. A., Snyder, M. P., Quintana‐Murci, L., Kidd, J. M., Underhill, P. A., et al. (2013) · Science · doi:10.1126/science.1237619 · Cited by 298 · see citing works
Why hunter-gatherer populations do not show signs of Pleistocene demographic expansions
Excoffier, L., & Schneider, S. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.19.10597 · Cited by 298 · see citing works
Lippold, S., Xu, H., Ko, A. M., Li, M., Renaud, G., Butthof, A., Schröder, R., & Stoneking, M. (2014) · Investigative Genetics · doi:10.1186/2041-2223-5-13 · Cited by 220 · see citing works
The Relationship Between FST and the Frequency of the Most Frequent Allele
Jakobsson, M., Edge, M. D., & Rosenberg, N. A. (2012) · Genetics · doi:10.1534/genetics.112.144758 · Cited by 216 · see citing works
Efficiently Inferring the Demographic History of Many Populations With Allele Count Data
Kamm, J., Terhorst, J., Durbin, R. M., & Song, Y. S. (2019) · Journal of the American Statistical Association · doi:10.1080/01621459.2019.1635482 · Cited by 161 · see citing works
Self-citationDenisovan Ancestry in East Eurasian and Native American Populations
Qin, P., & Stoneking, M. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv141 · Cited by 152 · see citing works
The mutation rate in human evolution and demographic inference
Scally, A. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.07.008 · Cited by 141 · see citing works
Self-citationPinotti, T., Bergström, A., Geppert, M., Bawn, M., Ohasi, D., Shi, W., Lacerda, D. R., Solli, A., Norstedt, J., Reed, K., et al. (2018) · Current Biology · doi:10.1016/j.cub.2018.11.029 · Cited by 138 · see citing works
Self-citationA Neolithic expansion, but strong genetic structure, in the independent history of New Guinea
Bergström, A., Oppenheimer, S., Mentzer, A. J., Auckland, K., Robson, K., Attenborough, R., Alpers, M. P., Koki, G., Pomat, W. S., Siba, P., et al. (2017) · Science · doi:10.1126/science.aan3842 · Cited by 111 · see citing works
Self-citationShi, W., Ayub, Q., Vermeulen, M., Shao, R.-G., Zuniga, S., van der Gaag, K. J., de Knijff, P., Kayser, M., Xue, Y., & Tyler‐Smith, C. (2009) · Molecular Biology and Evolution · doi:10.1093/molbev/msp243 · Cited by 108 · see citing works
Self-citationComplex Ancient Genetic Structure and Cultural Transitions in Southern African Populations
Montinaro, F., Busby, G., González‐Santos, M., Oosthuitzen, O., Oosthuitzen, E., Anagnostou, P., Destro‐Bisol, G., Pascali, V. L., & Capelli, C. (2016) · Genetics · doi:10.1534/genetics.116.189209 · Cited by 98 · see citing works
scrm: efficiently simulating long sequences using the approximated coalescent with recombination
Staab, P. R., Zhu, S. J., Metzler, D., & Lunter, G. A. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btu861 · Cited by 97 · see citing works
Modeling Human Population Separation History Using Physically Phased Genomes
Song, S., Śliwerska, E., Emery, S. B., & Kidd, J. M. (2016) · Genetics · doi:10.1534/genetics.116.192963 · Cited by 44 · see citing works
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 36 · see citing works
Self-citationA user-oriented web crawler for selectively acquiring online content in e-health research
Xu, S., Yoon, H., & Tourassi, G. D. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt571 · Cited by 34 · see citing works
Theoretical physics: The emperor's new physics
Dawid, R. (2016) · Nature · doi:10.1038/538036a · Cited by 2 · see citing works
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- [43]Simons GF Fennig CD Ethnologue: Languages of the World 2018 Twenty-first edition
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Sorted by citations
A genomic mutational constraint map using variation in 76,156 human genomes
Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature · doi:10.1038/s41586-023-06045-0 · Cited by 1,727 · see citing works
Nucleotide Transformer: building and evaluating robust foundation models for human genomics
Dalla-Torre, H., Gonzalez, L., Mendoza-Revilla, J., Lopez Carranza, N., Grzywaczewski, A. H., Oteri, F., Dallago, C., Trop, E., de Almeida, B. P., Sirelkhatim, H., et al. (2025) · Nature Methods · doi:10.1038/s41592-024-02523-z · Cited by 656 · see citing works
Race and Genetic Ancestry in Medicine — A Time for Reckoning with Racism
Borrell, L. N., Elhawary, J. R., Fuentes‐Afflick, E., Witonsky, J. I., Bhakta, N. R., Wu, A. H. B., Bibbins-Domingo, K. B., Rodríguez‐Santana, J., LeNoir, M. A., Gavin, J. R., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmms2029562 · Cited by 656 · see citing works
Wainschtein, P., Jain, D., Zheng, Z., TOPMed Anthropometry Working Group, Aslibekyan, S. W., Becker, D. M., Bi, W., Brody, J. A., Carlson, J. C., Correa, A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-00997-7 · Cited by 504 · see citing works
Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01148-2 · Cited by 453 · see citing works
Origins of modern human ancestry
Bergström, A., Stringer, C. B., Hajdinjak, M., Scerri, E. M. L., & Skoglund, P. (2021) · Nature · doi:10.1038/s41586-021-03244-5 · Cited by 426 · see citing works
Self-citationHTSlib: C library for reading/writing high-throughput sequencing data
(2021) · doi:10.1093/gigascience/giab007 · Cited by 413 · see citing works
Self-citationThe Allen Ancient DNA Resource (AADR) a curated compendium of ancient human genomes
Mallick, S., Micco, A., Mah, M., Ringbauer, H., Lazaridis, I., Olalde, Í., Patterson, N. J., & Reich, D. (2024) · Scientific Data · doi:10.1038/s41597-024-03031-7 · Cited by 438 · see citing works
Self-citationThe structure, function and evolution of a complete human chromosome 8
Logsdon, G. A., Vollger, M. R., Hsieh, P., Mao, Y., Liskovykh, M. A., Koren, S., Nurk, S., Mercuri, L., Dishuck, P. C., Rhie, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03420-7 · Cited by 326 · see citing works
Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2
Suryamohan, K., Diwanji, D. C., Stawiski, E. W., Gupta, R. K., Miersch, S., Liu, J., Chen, C., Jiang, Y.-P., Fellouse, F. A., Sathirapongsasuti, J. F., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02030-3 · Cited by 296 · see citing works
Wei, C.-Y., Yang, J.-H., Yeh, E., Tsai, M.-F., Kao, H., Lo, C.-Z., Chang, L.-P., Lin, W.-J., Hsieh, F., Belsare, S., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00178-9 · Cited by 252 · see citing works
Recovery of trait heritability from whole genome sequence data
Wainschtein, P., Jain, D., Zheng, Z., TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples, L. A., Shadyab, A. H., McKnight, B., Shoemaker, B. M., Mitchell, B. D., et al. (2019) · doi:10.1101/588020 · Cited by 515 · see citing works
Self-citationA unified genealogy of modern and ancient genomes
Wohns, A. W., Wong, Y., Jeffery, B., Akbari, A., Mallick, S., Pinhasi, R., Patterson, N. J., Reich, D., Kelleher, J., & McVean, G. (2022) · Science · doi:10.1126/science.abi8264 · Cited by 182 · see citing works
Self-citationPeopling of the Americas as inferred from ancient genomics
Willerslev, E., & Meltzer, D. J. (2021) · Nature · doi:10.1038/s41586-021-03499-y · Cited by 178 · see citing works
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility
Warren, W. C., Harris, R. A., Haukness, M., Fiddes, I. T., Murali, S. C., Fernandes, J. D., Dishuck, P. C., Storer, J. M., Raveendran, M., Hillier, L., et al. (2020) · Science · doi:10.1126/science.abc6617 · Cited by 179 · see citing works
Use of race, ethnicity, and ancestry data in health research
Lu, C., Ahmed, R., Lamri, A., & Anand, S. S. (2022) · PLOS Global Public Health · doi:10.1371/journal.pgph.0001060 · Cited by 162 · see citing works
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
Naslavsky, M. S., Scliar, M. O., Yamamoto, G. L., Wang, J. Y. T., Zverinova, S., Karp, T., Nunes, K., Ceroni, J. R. M., de Carvalho, D. L., Simões, C. E. D. S., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28648-3 · Cited by 159 · see citing works
A harmonized public resource of deeply sequenced diverse human genomesPreprint
Koenig, Z., Yohannes, M. T., Nkambule, L. L., Zhao, X., Goodrich, J. K., Kim, H. A., Wilson, M. W., Tiao, G., Hao, S. P., Sahakian, N., et al. (2024) · Genome Research · doi:10.1101/gr.278378.123 · Cited by 160 · see citing works
Ancient DNA and deep population structure in sub-Saharan African foragers
Lipson, M., Sawchuk, E., Thompson, J. C., Oppenheimer, J., Tryon, C. A., Ranhorn, K. L., de Luna, K. M., Sirak, K. A., Olalde, Í., Ambrose, S. H., et al. (2022) · Nature · doi:10.1038/s41586-022-04430-9 · Cited by 154 · see citing works
Self-citationRecurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Porubskỳ, D., Höps, W., Ashraf, H., Hsieh, P., Rodríguez–Martín, B., Yilmaz, F., Ebler, J., Hallast, P., Maggiolini, F. A. M., Harvey, W. T., et al. (2022) · Cell · doi:10.1016/j.cell.2022.04.017 · Cited by 159 · see citing works
Self-citationHuman social organization during the Late Pleistocene: Beyond the nomadic-egalitarian model
Singh, M., & Glowacki, L. (2022) · Evolution and Human Behavior · doi:10.1016/j.evolhumbehav.2022.07.003 · Cited by 157 · see citing works
Carrot‐Zhang, J., Soca‐Chafre, G., Patterson, N. J., Thorner, A. R., Nag, A., Watson, J., Genovese, G., Rodríguez, J. K., Gelbard, M. K., Corrales, L., et al. (2020) · Cancer Discovery · doi:10.1158/2159-8290.cd-20-1165 · Cited by 156 · see citing works
The selection landscape and genetic legacy of ancient Eurasians
Irving-Pease, E. K., Refoyo-Martínez, A., Barrie, W., Ingason, A., Pearson, A., Fischer, A., Sjögren, K.-G., Halgren, A. S., Macleod, R., Demeter, F., et al. (2024) · Nature · doi:10.1038/s41586-023-06705-1 · Cited by 147 · see citing works
Self-citationThe Allen Ancient DNA Resource (AADR): A curated compendium of ancient human genomesPreprint
Mallick, S., Micco, A., Mah, M., Ringbauer, H., Lazaridis, I., Olalde, Í., Patterson, N. J., & Reich, D. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.04.06.535797 · Cited by 153 · see citing works
Self-citationThree assays for in-solution enrichment of ancient human DNA at more than a million SNPsPreprint
Rohland, N., Mallick, S., Mah, M., Maier, R., Patterson, N. J., & Reich, D. (2022) · Genome Research · doi:10.1101/gr.276728.122 · Cited by 142 · see citing works
Self-citationWang, A., Shen, J., Rodriguez, A. A., Saunders, E. J., Chen, F., Janivara, R., Darst, B. F., Sheng, X., Xu, Y., Chou, A., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01534-4 · Cited by 161 · see citing works
Whole-genome sequencing of 490,640 UK Biobank participants
Manuscript Writing Group, Carss, K., Halldórsson, B. V., Hou, L., Liu, J. Z., Wheeler, E., Lo, Y., Kundu, K., Huang, Z., Lacey, B., et al. (2025) · Nature · doi:10.1038/s41586-025-09272-9 · Cited by 223 · see citing works
Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition
Hu, W., Hao, Z.-Q., Du, P., Vincenzo, F. D., Manzi, G., Cui, J., Fu, Y., Pan, Y.-H., & Li, H. (2023) · Science · doi:10.1126/science.abq7487 · Cited by 142 · see citing works
The revolution that still isn't: The origins of behavioral complexity in Homo sapiens
Scerri, E. M. L., & Will, M. (2023) · Journal of Human Evolution · doi:10.1016/j.jhevol.2023.103358 · Cited by 143 · see citing works
Fostering Responsible Research on Ancient DNA
Wagner, J. K., Colwell, C., Claw, K. G., Stone, A. C., Bolnick, D. A., Hawks, J. D., Brothers, K. B., & Garrison, N. A. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.017 · Cited by 138 · see citing works
Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Kayser, M., Branicki, W., Parson, W., & Phillips, C. (2023) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2023.102870 · Cited by 144 · see citing works
Mexican Biobank advances population and medical genomics of diverse ancestries
Sohail, M., Palma-Martínez, M. J., Chong, A. Y.-Y., Quinto-Cortés, C. D., Barberena-Jonas, C., Medina-Muñoz, S. G., Ragsdale, A. P., Delgado-Sánchez, G., Cruz‐Hervert, L. P., Ferreyra-Reyes, L. D., et al. (2023) · Nature · doi:10.1038/s41586-023-06560-0 · Cited by 140 · see citing works
Admixture’s impact on Brazilian population evolution and health
Nunes, K., Silva, M. A. C. E., Rodrigues, M. R., Lemes, R. B., Pezo, P., Kimura, L., Sena, L. S., Krieger, J. E., Varela, M. C., Azevedo, L. O., et al. (2025) · Science · doi:10.1126/science.adl3564 · Cited by 149 · see citing works
The timing and effect of the earliest human arrivals in North America
Becerra‐Valdivia, L., & Higham, T. (2020) · Nature · doi:10.1038/s41586-020-2491-6 · Cited by 128 · see citing works
The female protective effect against autism spectrum disorder
Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100134 · Cited by 124 · see citing works
The female protective effect against autism spectrum disorder
Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2021) · doi:10.1101/2021.03.29.21253866 · Cited by 124 · see citing works
Human genetic diversity alters off-target outcomes of therapeutic gene editing
Cancellieri, S., Zeng, J., Lin, L. Y., Tognon, M., Nguyen, M. A., Lin, J., Bombieri, N., Maitland, S. A., Ciuculescu, M.-F., Katta, V., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01257-y · Cited by 122 · see citing works
The Need for a Human Pangenome Reference Sequence
Miga, K. H., & Wang, T. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120120-081921 · Cited by 120 · see citing works
South-to-north migration preceded the advent of intensive farming in the Maya region
Kennett, D. J., Lipson, M., Prufer, K. M., Mora‐Marín, D. F., George, R. J., Rohland, N., Robinson, M. E., Trask, W. R., Edgar, H. J. H., Hill, E. C., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-29158-y · Cited by 121 · see citing works
Self-citationPredicting geographic location from genetic variation with deep neural networks
Battey, C. J., Ralph, P. L., & Kern, A. D. (2020) · eLife · doi:10.7554/elife.54507 · Cited by 119 · see citing works
Zhang, P., Luo, H., Li, Y., Wang, Y., Wang, J., Zheng, Y., Niu, Y., Shi, Y., Zhou, H., Song, T., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110017 · Cited by 119 · see citing works
Development of a Roadmap for Action on New Approach Methodologies in Risk Assessment
Escher, S. E., Partosch, F., Konzok, S., Jennings, P., Luijten, M., Kienhuis, A. S., de Leeuw, V. C., Reuss, R., Lindemann, K.-M., & Bennekou, S. H. (2022) · EFSA Supporting Publications · doi:10.2903/sp.efsa.2022.en-7341 · Cited by 108 · see citing works
Genome of a middle Holocene hunter-gatherer from Wallacea
Carlhoff, S., Duli, A., Nägele, K., Nur, M., Skov, L., Sumantri, I., Oktaviana, A. A., Hakim, B., Burhan, B., Syahdar, F. A., et al. (2021) · Nature · doi:10.1038/s41586-021-03823-6 · Cited by 104 · see citing works
Human genetic history on the Tibetan Plateau in the past 5100 years
Wang, H., Yang, M. A., Wangdue, S., Lü, H., Chen, H., Li, L., Dong, G., Tsring, T., Yuan, H., He, W., et al. (2023) · Science Advances · doi:10.1126/sciadv.add5582 · Cited by 104 · see citing works
Genetic and molecular architecture of complex traits
Lappalainen, T., Li, Y., Ramachandran, S., & Gusev, A. (2024) · Cell · doi:10.1016/j.cell.2024.01.023 · Cited by 108 · see citing works
Imputation of ancient human genomes
da Mota, B. S., Rubinacci, S., Dávalos, D. I. C., Amorim, C. E. G., Sikora, M., Johannsen, N. N., Szmyt, M., Włodarczak, P., Szczepanek, A., Przybyła, M. M., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-39202-0 · Cited by 103 · see citing works
Fast, accurate local ancestry inference with FLARE
Browning, S. R., Waples, R. K., & Browning, B. L. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.12.010 · Cited by 99 · see citing works
Off-target effects in CRISPR-Cas genome editing for human therapeutics: Progress and challenges
Kalter, N., Fuster‐García, C., Silva, A., Ronco-Díaz, V., Roncelli, S., Turchiano, G., Gorodkin, J., Cathomen, T., Benabdellah, K., Lee, C. M., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102636 · Cited by 107 · see citing works
Population Structure, Stratification, and Introgression of Human Structural Variation
Almarri, M. A., Bergström, A., Prado-Martinez, J., Yang, F., Fu, B., Dunham, A. S., Chen, Y., Hurles, M. E., Tyler‐Smith, C., & Xue, Y. (2020) · Cell · doi:10.1016/j.cell.2020.05.024 · Cited by 92 · see citing works
Self-citationPhilippine Ayta possess the highest level of Denisovan ancestry in the world
Larena, M., McKenna, J., Sanchez-Quinto, F., Bernhardsson, C., Ebeo, C., Reyes, R., Casel, O., Huang, J.-Y., Hagada, K. P., Guilay, D., et al. (2021) · Current Biology · doi:10.1016/j.cub.2021.07.022 · Cited by 93 · see citing works
PGG.Han: the Han Chinese genome database and analysis platform
Gao, Y., Zhang, C., Yuan, L., Ling, Y., Wang, X., Liu, C., Pan, Y., Zhang, X., Ma, X., Wang, Y., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz829 · Cited by 89 · see citing works
Genome-wide association study of long COVID
Lammi, V., Nakanishi, T., Jones, S. E., Andrews, S. J., Karjalainen, J. M., Cortés, B., O’Brien, H., Ochoa-Guzmán, A., Fulton‐Howard, B., Broberg, M. E., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02100-w · Cited by 86 · see citing works
Bantu-speaker migration and admixture in southern Africa
Choudhury, A., Sengupta, D., Ramsay, M., & Schlebusch, C. M. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa274 · Cited by 85 · see citing works
Genome structural variation in human evolution
Hollox, E. J., Zuccherato, L. W., & Tucci, S. (2021) · Trends in Genetics · doi:10.1016/j.tig.2021.06.015 · Cited by 85 · see citing works
Stable population structure in Europe since the Iron Age, despite high mobility
Antonio, M. L., Weiß, C. L., Gao, Z., Sawyer, S., Oberreiter, V., Moots, H. M., Spence, J. P., Cheronet, O., Zagorc, B., Praxmarer, E., et al. (2023) · eLife · doi:10.7554/elife.79714 · Cited by 81 · see citing works
Placing Ancient DNA Sequences into Reference Phylogenies
Martiniano, R., Sanctis, B. D., Hallast, P., & Durbin, R. M. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac017 · Cited by 82 · see citing works
Self-citationIndigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts
Caron, N. R., Chongo, M., Hudson, M. L., Arbour, L. T., Wasserman, W. W., Robertson, S. P., Correard, S., & Wilcox, P. (2020) · Frontiers in Public Health · doi:10.3389/fpubh.2020.00111 · Cited by 82 · see citing works
Sources of gene expression variation in a globally diverse human cohort
Taylor, D. J., Chhetri, S. B., Tassia, M. G., Biddanda, A., Yan, S. M., Wojcik, G. L., Battle, A. J., & McCoy, R. C. (2024) · Nature · doi:10.1038/s41586-024-07708-2 · Cited by 80 · see citing works
Paleo-ENSO influence on African environments and early modern humans
Kaboth‐Bahr, S., Gosling, W. D., Vogelsang, R., Bahr, A., Scerri, E. M. L., Asrat, A., Cohen, A. S., Düsing, W., Foerster, V., Lamb, H. F., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2018277118 · Cited by 78 · see citing works
Visualizing population structure with variational autoencoders
Battey, C. J., Coffing, G. C., & Kern, A. D. (2021) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkaa036 · Cited by 78 · see citing works
Genome interpretation using in silico predictors of variant impact
Katsonis, P., Wilhelm, K. O., Williams, A. M., & Lichtarge, O. (2022) · Human Genetics · doi:10.1007/s00439-022-02457-6 · Cited by 81 · see citing works
Sanchez, T., Cury, J., Charpiat, G., & Jay, F. (2020) · Molecular Ecology Resources · doi:10.1111/1755-0998.13224 · Cited by 78 · see citing works
Clinical Interpretation and Management of Genetic Variants
Marian, A. J. (2020) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2020.05.013 · Cited by 74 · see citing works
Purnomo, G. A., Mitchell, K. J., O’Connor, S., Kealy, S., Taufik, L., Schiller, S., Rohrlach, A. B., Cooper, A., Llamas, B., Sudoyo, H., et al. (2021) · Genes · doi:10.3390/genes12070965 · Cited by 75 · see citing works
The genomic history of the Middle East
Almarri, M. A., Haber, M., Lootah, R. A., Hallast, P., Turki, S. H. A., Martin, H. C., Xue, Y., & Tyler‐Smith, C. (2021) · Cell · doi:10.1016/j.cell.2021.07.013 · Cited by 72 · see citing works
Self-citationIndigenous Australian genomes show deep structure and rich novel variation
Silcocks, M., Farlow, A., Hermes, A., Tsambos, G., Patel, H. R., Huebner, S., Baynam, G. S., Jenkins, M. R., Vukcevic, D., Easteal, S., et al. (2023) · Nature · doi:10.1038/s41586-023-06831-w · Cited by 73 · see citing works
Recurrent evolution and selection shape structural diversity at the amylase locus
Bolognini, D., Halgren, A. S., Lou, R. N., Raveane, A., Rocha, J. L., Guarracino, A., Soranzo, N., Chin, C.-S., Garrison, E. P., & Sudmant, P. H. (2024) · Nature · doi:10.1038/s41586-024-07911-1 · Cited by 75 · see citing works
Gopalan, S., Berl, R. E. W., Myrick, J. W., Garfield, Z. H., Reynolds, A. W., Bafens, B. K., Belbin, G. M., Mastoras, M., Williams, C., Daya, M., et al. (2022) · Current Biology · doi:10.1016/j.cub.2022.02.050 · Cited by 73 · see citing works
Population Histories and Genomic Diversity of South American Natives
Silva, M. A. C. E., Ferraz, T., Couto-Silva, C. M., Lemes, R. B., Nunes, K., Comas, D., & Hünemeier, T. (2021) · Molecular Biology and Evolution · doi:10.1093/molbev/msab339 · Cited by 71 · see citing works
Twenty years of the Human Genome Diversity Project
Aneli, S., Birolo, G., & Matullo, G. (2022) · Green Energy and Sustainability · doi:10.47248/hpgg2202040005 · Cited by 72 · see citing works
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
Bastard, P., Hsiao, K., Zhang, Q., Choin, J., Best, E., Chen, J., Gervais, A., Bizien, L., Materna, M., Harmant, C., et al. (2022) · The Journal of Experimental Medicine · doi:10.1084/jem.20220028 · Cited by 70 · see citing works
He, G., Wang, M., Zou, X., Yeh, H., Liu, C., Liu, C.-L., Chen, G., & Wang, C. (2022) · Journal of Systematics and Evolution · doi:10.1111/jse.12827 · Cited by 67 · see citing works
Widespread somatic L1 retrotransposition in normal colorectal epithelium
Nam, C. H., Youk, J., Kim, J. Y., Lim, J., Park, J. W., Oh, S. A., Lee, H. J., Won, H., Won, H., Lee, D.-S., et al. (2023) · Nature · doi:10.1038/s41586-023-06046-z · Cited by 68 · see citing works
Genetic Variation and Hybridization in Evolutionary Radiations of Cichlid Fishes
Svardal, H., Salzburger, W., & Malinsky, M. (2020) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-061220-023129 · Cited by 62 · see citing works
GenoTools: an open-source Python package for efficient genotype data quality control and analysis
Vitale, D., Koretsky, M. J., Kuznetsov, N., Hong, S., Martin, J., James, M., Makarious, M. B., Leonard, H. L., Iwaki, H., Faghri, F., et al. (2024) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkae268 · Cited by 67 · see citing works
A variant-centric perspective on geographic patterns of human allele frequency variation
Biddanda, A., Rice, D. P., & Novembre, J. (2020) · eLife · doi:10.7554/elife.60107 · Cited by 64 · see citing works
Episodes of Diversification and Isolation in Island Southeast Asian and Near Oceanian Male Lineages
Karmin, M., Flores, R., Saag, L., Hudjashov, G., Brucato, N., Darusallam, C. C., Larena, M., Endicott, P., Jakobsson, M., Lansing, J. S., et al. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac045 · Cited by 65 · see citing works
More than a decade of genetic research on the Denisovans
Peyrégne, S., Slon, V., & Kelso, J. F. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00643-4 · Cited by 66 · see citing works
Dai, C. L., Vazifeh, M. M., Yeang, C., Combes, R. T. D., Wells, R. S., Vilar, M. G., Daly, M. J., Ratti, C., & Martin, A. R. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.02.002 · Cited by 59 · see citing works
Practical guide for managing large-scale human genome data in research
Tanjo, T., Kawai, Y., Tokunaga, K., Ogasawara, O., & Nagasaki, M. (2021) · Journal of Human Genetics · doi:10.1038/s10038-020-00862-1 · Cited by 62 · see citing works
Johansson, P., Brattås, P., Douse, C., Hsieh, P.-H., Adami, A., Pontis, J., Grassi, D., Garza, R., Sozzi, E., Cataldo, R., et al. (2021) · Cell Stem Cell · doi:10.1016/j.stem.2021.09.008 · Cited by 52 · see citing works
Population differentiation of polygenic score predictions under stabilizing selection
Yair, S., & Coop, G. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0416 · Cited by 58 · see citing works
Neanderthal ancestry through time: Insights from genomes of ancient and present-day humans
Iasi, L. N. M., Chintalapati, M., Skov, L., Mesa, A. B., Hajdinjak, M., Peter, B. M., & Moorjani, P. (2024) · Science · doi:10.1126/science.adq3010 · Cited by 58 · see citing works
Evolutionary Genetics and Admixture in African Populations
Pfennig, A., Petersen, L. N., Kachambwa, P., & Lachance, J. (2023) · Genome Biology and Evolution · doi:10.1093/gbe/evad054 · Cited by 61 · see citing works
Loog, L. (2020) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2019.0719 · Cited by 59 · see citing works
Padilla‐Iglesias, C., Atmore, L. M., Olivero, J., Lupo, K. D., Manica, A., Arango-Isaza, E., Vinicius, L., & Migliano, A. B. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2113936119 · Cited by 58 · see citing works
Reconstruction of the Austronesian Diaspora in the Era of Genomics
Chambers, G. K., & Edinur, H. A. (2021) · Human Biology · doi:10.1353/hub.2017.0096 · Cited by 58 · see citing works
Greater genetic diversity is needed in human pluripotent stem cell models
Ghosh, S. D., Nehme, R., & Barrett, L. E. (2022) · Nature Communications · doi:10.1038/s41467-022-34940-z · Cited by 58 · see citing works
Findlay, G. M. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab219 · Cited by 55 · see citing works
Marchal, C., Singh, N., Batz, Z. A., Advani, J., Jaeger, C., Corso‐Díaz, X., & Swaroop, A. (2022) · Nature Communications · doi:10.1038/s41467-022-33427-1 · Cited by 57 · see citing works
The most frequent HLA alleles around the world: A fundamental synopsis
Sanchez‐Mazas, A., Nunes, J. M., Di, D., Alanís-Domínguez, E., Gerbault, P., Faye, N. K., Almawi, W. Y., Andreani, M., Arrieta‐Bolaños, E., Augusto, D. G., et al. (2024) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2024.101559 · Cited by 57 · see citing works
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Kwon, Y. M., Vranken, N., Hoge, C., Lichak, M. R., Norovich, A. L., Francis, K. X., Camacho-Garcia, J., Bista, I., Wood, J. M. D., McCarthy, S., et al. (2022) · Science Advances · doi:10.1126/sciadv.abm4950 · Cited by 55 · see citing works
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Yao, Y., & Ochoa, A. (2023) · eLife · doi:10.7554/elife.79238 · Cited by 54 · see citing works
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Batai, K., Hooker, S. E., & Kittles, R. A. (2020) · American Journal of Physical Anthropology · doi:10.1002/ajpa.24144 · Cited by 55 · see citing works
Meltzer, D. J. (2021) · Cambridge University Press eBooks · doi:10.1017/9781108632867 · Cited by 63 · see citing works
High Resolution Ancestry Deconvolution for Next Generation Genomic DataPreprint
Hilmarsson, H., Kumar, A. S., Rastogi, R., Bustamante, C. D., Montserrat, D. M., & Ioannidis, A. G. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.19.460980 · Cited by 54 · see citing works
Population Genetics and Signatures of Selection in Early Neolithic European Farmers
Childebayeva, A., Rohrlach, A. B., Barquera, R., Rivollat, M., Aron, F., Szolek, A., Kohlbacher, O., Nicklisch, N., Alt, K. W., Gronenborn, D., et al. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac108 · Cited by 49 · see citing works
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Robbins, N. M., Charleston, L. I., Saadi, A., Thayer, Z. M., Codrington, W. U., III, Landry, A., Bernat, J. L., & Hamilton, R. H. (2022) · Neurology · doi:10.1212/wnl.0000000000200830 · Cited by 52 · see citing works
Johnson, R., Ding, Y., Venkateswaran, V., Bhattacharya, A., Boulier, K. M., Chiu, A. M., Knyazev, S., Schwarz, T., Freund, M. K., Zhan, L., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01106-x · Cited by 48 · see citing works
Teixeira, J. C., Jacobs, G. S., Stringer, C., Tuke, J., Hudjashov, G., Purnomo, G. A., Sudoyo, H., Cox, M. P., Tobler, R., Turney, C. S. M., et al. (2021) · Nature Ecology & Evolution · doi:10.1038/s41559-021-01408-0 · Cited by 51 · see citing works
- 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 · 2019: 6 · 2018: 2 · 2017: 1
- 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
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