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

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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A global reference for human genetic variation

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BEAST: Bayesian evolutionary analysis by sampling trees

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Mathematical model for studying genetic variation in terms of restriction endonucleases.

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Fast model-based estimation of ancestry in unrelated individuals

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dbSNP: the NCBI database of genetic variation

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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

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A genomic mutational constraint map using variation in 76,156 human genomes

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Nucleotide Transformer: building and evaluating robust foundation models for human genomics

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Race and Genetic Ancestry in Medicine — A Time for Reckoning with Racism

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Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

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Origins of modern human ancestry

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HTSlib: C library for reading/writing high-throughput sequencing data

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The Allen Ancient DNA Resource (AADR) a curated compendium of ancient human genomes

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The structure, function and evolution of a complete human chromosome 8

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Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2

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Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

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Recovery of trait heritability from whole genome sequence data

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A unified genealogy of modern and ancient genomes

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Peopling of the Americas as inferred from ancient genomics

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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

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Use of race, ethnicity, and ancestry data in health research

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Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

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A harmonized public resource of deeply sequenced diverse human genomesPreprint

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Ancient DNA and deep population structure in sub-Saharan African foragers

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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

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Human social organization during the Late Pleistocene: Beyond the nomadic-egalitarian model

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Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations

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

The selection landscape and genetic legacy of ancient Eurasians

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The Allen Ancient DNA Resource (AADR): A curated compendium of ancient human genomesPreprint

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Three assays for in-solution enrichment of ancient human DNA at more than a million SNPsPreprint

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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

Wang, 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 175

Whole-genome sequencing of 490,640 UK Biobank participants

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Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition

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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 148

Fostering Responsible Research on Ancient DNA

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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 148

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 142

Admixture’s impact on Brazilian population evolution and health

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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 136

A deep catalogue of protein-coding variation in 983,578 individuals

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The female protective effect against autism spectrum disorder

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The female protective effect against autism spectrum disorder

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Human genetic diversity alters off-target outcomes of therapeutic gene editing

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The Need for a Human Pangenome Reference Sequence

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South-to-north migration preceded the advent of intensive farming in the Maya region

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Predicting geographic location from genetic variation with deep neural networks

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NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population

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Development of a Roadmap for Action on New Approach Methodologies in Risk Assessment

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Genome of a middle Holocene hunter-gatherer from Wallacea

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Human genetic history on the Tibetan Plateau in the past 5100 years

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Genetic and molecular architecture of complex traits

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Imputation of ancient human genomes

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Fast, accurate local ancestry inference with FLARE

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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 121

Population Structure, Stratification, and Introgression of Human Structural Variation

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Philippine Ayta possess the highest level of Denisovan ancestry in the world

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PGG.Han: the Han Chinese genome database and analysis platform

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Genome-wide association study of long COVID

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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

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 93

Stable population structure in Europe since the Iron Age, despite high mobility

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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 85

Indigenous 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 88

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 83

Paleo-ENSO influence on African environments and early modern humans

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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 80

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 86

Deep learning for population size history inference: Design, comparison and combination with approximate Bayesian computation

Sanchez, T., Cury, J., Charpiat, G., & Jay, F. (2020) · Molecular Ecology Resources · doi:10.1111/1755-0998.13224 · Cited by 89

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 79

Mitogenomes Reveal Two Major Influxes of Papuan Ancestry across Wallacea Following the Last Glacial Maximum and Austronesian Contact

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The genomic history of the Middle East

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Indigenous Australian genomes show deep structure and rich novel variation

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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 88

Hunter-gatherer genomes reveal diverse demographic trajectories during the rise of farming in Eastern Africa

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 74

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 75

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 73

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Bastard, P., Hsiao, K.-C., Zhang, Q., Choin, J., Best, E., Chen, J., Gervais, A., Bizien, L., Materna, M., Harmant, C., et al. (2022) · Journal of Experimental Medicine · doi:10.1084/jem.20220028 · Cited by 70

Extensive ethnolinguistic diversity at the crossroads of North China and South Siberia reflects multiple sources of genetic diversity

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

Widespread somatic L1 retrotransposition in normal colorectal epithelium

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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

GenoTools: an open-source Python package for efficient genotype data quality control and analysis

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A variant-centric perspective on geographic patterns of human allele frequency variation

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