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

Bergström, Anders, McCarthy, Shane A., Hui, Ruoyun, Almarri, Mohamed A., Ayub, Qasim, Danecek, Petr, Chen, Yuan, Felkel, Sabine, Hallast, Pille, Kamm, Jack, Blanché, Hélène, Deleuze, Jean-François, Cann, Howard, Mallick, Swapan, Reich, David, Sandhu, Manjinder S., Skoglund, Pontus, Scally, Aylwyn, Xue, Yali, Durbin, Richard, Tyler-Smith, Chris·2020·Science

DOI 10.1126/science.aay5012

Cited by (1,003)

Items 501–600 of 1,003

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Enhancement of hidden Markov model analyses for improved inference of archaic introgression in modern humans
Moisès Coll Macià, Laurits Skov, Zenia Elise Damgaard Bæk, Asger Hobolth · 2026 · Molecular Biology and Evolution
Inferring past demography and genetic adaptation in Spain using the GCAT cohort
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Whole-genome sequences provide insights into the formation and adaptation of human populations in the Himalayas
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The Oxford Handbook of Archaeology and Language
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HKG: an open genetic variant database of 205 Hong Kong cantonese exomes
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Evaluation of vicinity-based hidden Markov models for genotype imputation
Su Wang, Miran Kim, Xiaoqian Jiang, Arif O. Harmanci · 2022 · BMC Bioinformatics
The Legacy of Infectious Disease Exposure on the Genomic Diversity of Indigenous Southern Mexicans
Obed A. Garcia, Kendall J. Arslanian, Daniel Whorf, Serena Thariath, Mark D. Shriver, Jun Z. Li, Abigail W. Bigham · 2023 · Genome Biology and Evolution
A common variant rs2054564 in ADAMTS17 is associated with susceptibility to lumbar spondylosis
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A Genome-Wide Analysis of a Sudden Cardiac Death Cohort: Identifying Novel Target Variants in the Era of Molecular Autopsy
Livia Beccacece, Paolo Abondio, Arianna Giorgetti, Carla Bini, Guido Pelletti, Donata Luiselli, Susi Pelotti · 2023 · Genes
ILIAD: a suite of automated Snakemake workflows for processing genomic data for downstream applications
Noah Herrick, Susan Walsh · 2023 · BMC Bioinformatics
Hunter–gatherer genetics research: Importance and avenues
Cecilia Padilla‐Iglesias, Inez Derkx · 2024 · Evolutionary Human Sciences
Distinct positions of genetic and oral histories: Perspectives from India
Arjun Biddanda, Esha Bandyopadhyay, Constanza de la Fuente Castro, David Witonsky, Jose A. Urban Aragon, Nagarjuna Pasupuleti, Hannah M. Moots, Renée Fonseca, Suzanne Freilich, Jovan Stanisavic et al. · 2024 · Human Genetics and Genomics Advances
Population specific reference panels are crucial for the genetic analyses of Native Hawai’ians: an example of the CREBRF locus
Meng Hsuan Lin, Christian Caberto, Peggy C. Wan, Yuqing Li, Annette Lum‐Jones, Maarit Tiirikainen, Loreall Pooler, Brooke Naomi Nakamura, Xin Sheng, Jacqueline Porcel et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
Genomic consequences of domestication of the Siamese fighting fish
Young Mi Kwon, Nathan Vranken, Carla Hoge, Madison R Lichak, Kerel X Francis, Julia Camacho-Garcia, Iliana Bista, Jonathan M. D. Wood, Shane McCarthy, William Chow et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
Diversity in cancer genomics research is a matter of equity and scientific discovery
Tuya Pal · 2021 · Genetics in Medicine
Health care utilization of fine-scale identity by descent clusters in a Los Angeles biobank
Christa Caggiano, Arya Boudaie, Ruhollah Shemirani, Ella Petter, Alec M. Chiu, Ruth Johnson, Defne Ercelen, Bogdan Paşaniuc, Eimear E. Kenny, Jonathan Shortt et al. · 2022 · medRxiv
Imputation of ancient genomes
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Joint Multi-Ancestry and Admixed GWAS Reveals the Complex Genetics behind Human Cranial Vault Shape
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Signals of Human Polygenic Adaptation: Moving Beyond Single-Gene Methods and Controlling for Population-Specific Linkage Disequilibrium
Davide Piffer · 2023 · Qeios
Deep estimation of the intensity and timing of selection from ancient genomes
Guillaume Laval, Étienne Patin, Lluís Quintana‐Murci, Gaspard Kerner · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
Full resolution HLA and KIR genes annotation for human genome assemblies
Ying Zhou, Li Song, Heng Li · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
Unexpected D-tour Ahead: Why the D-Statistic, applied to Humans, Measures Mutation Rate Variation and Not Neanderthal Introgression
William Amos, Eran Elhaik · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
Patterns of population structure and genetic variation within the Saudi Arabian population
Dorcus Kholofelo Malomane, M.P. Williams, Leqi Tian, Ji Tang, Christian D. Huber, Serghei Mangul, M. Abedalthagafi, C. W. K. Chiang · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
Deep learning insights into distinct patterns of polygenic adaptation across human populations
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Integrated genetic and geographic ancestry prediction via large-scale genomic data and machine learning
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Human Genome Diversity Project data use and implications for the governance of legacy genomic data
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Allele, Diplotype, and Phenotype Frequency Distribution of CYP2B6, CYP2C19, and CYP2D6 in the Han Population in North China
Yueyao Luan, Qixuan Sun, Yiyuan Wang, Binliang Tong, Liguang Duan, Jiaqi Wang, Yuhang Yan, Chaoli Chen, Yang Lun, Jing Yu et al. · 2025 · Journal of Molecular Diagnostics
Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations
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Wen Wan, Hongling Zhang, Zheng Ren, Qiyan Wang, Yubo Liu, Jingyan Ji, Meiqing Yang, Han Zhang, Jiang Huang, Xiaoye Jin · 2023 · Electrophoresis
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Justina S. Lipscomb, Marina Gálvez‐Peralta, Cheryl D. Cropp, Elina Delgado, Rustin D. Crutchley, Diane M. Calinski, Otito Frances Iwuchukwu · 2023 · American Journal of Pharmaceutical Education
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Daniel J. Cotter, Timothy H. Webster, Melissa A. Wilson · 2023 · PLoS ONE
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Roukoz Abou-Karam, Fangzhou Cheng, Shoshana Gady, Akl C. Fahed · 2024 · Current Atherosclerosis Reports
The FGFR2 Variant rs13387042 is Associated With Breast Cancer Risk: A Meta-Analysis and Systematic Review
Weining Pan, Hui Cheng, Juan Zhang, Zijie Yang, Mengbo Lin · 2024 · Clinical Breast Cancer
Genetic associations with disease in populations with Indigenous American ancestries
Lucas Vicuña · 2024 · Genetics and Molecular Biology
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Michael J. Sheehan, Sara Miller · 2025 · Philosophical Transactions of the Royal Society B Biological Sciences
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Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels
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Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia
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Exploration of hanging coffin customs and the bo people in China through comparative genomics
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