ArticleScience (New York, N.Y.)2019
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
Article in Science (New York, N.Y.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed.
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- A global map for introgressed structural variation and selection in humans.Science (New York, N.Y.) · 2026Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans.Cell genomics · 2025Article
- Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.Nature communications · 2025Article
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024Article
- Article
- More than a decade of genetic research on the Denisovans.Nature reviews. Genetics · 2024Review
- Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.Nature reviews. Genetics · 2023Review
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from otherGenome research · 2023Article
- Article
- Localizing Post-Admixture Adaptive Variants with Object Detection on Ancestry-Painted Chromosomes.Molecular biology and evolution · 2023Article
- Structurally divergent and recurrently mutated regions of primate genomes.bioRxiv : the preprint server for biology · 2023Article
- Long divergent haplotypes introgressed from wild sheep are associated with distinct morphological and adaptive characteristics in domestic sheep.PLoS genetics · 2023Article
- PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform.Nucleic acids research · 2023Article
- Genomic Consequences of and Demographic Response to Pervasive Hybridization Over Time in Climate-Sensitive Pikas.Molecular biology and evolution · 2023Article
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Authors and funding
20 authors.
Funding
Abstract
Copy number variants (CNVs) are subject to stronger selective pressure than single-nucleotide variants, but their roles in archaic introgression and adaptation have not been systematically investigated. We show that stratified CNVs are significantly associated with signatures of positive selection in Melanesians and provide evidence for adaptive introgression of large CNVs at chromosomes 16p11.2 and 8p21.3 from Denisovans and Neanderthals, respectively. Using long-read sequence data, we reconstruct the structure and complex evolutionary history of these polymorphisms and show that both encode positively selected genes absent from most human populations. Our results collectively suggest that large CNVs originating in archaic hominins and introgressed into modern humans have played an important role in local population adaptation and represent an insufficiently studied source of large-scale genetic variation.
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