ArticleGenetics2020
Analysis of Haplotypic Variation and Deletion Polymorphisms Point to Multiple Archaic Introgression Events, Including from Altai Neanderthal Lineage.
Article in Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.Molecular psychiatry · 2024Article
- Pharmacogenetic Variation in Neanderthals and Denisovans and Implications for Human Health and Response to Medications.Genome biology and evolution · 2023Article
- Temporal Variation in Introgressed Segments' Length Statistics Computed from a Limited Number of Ancient Genomes Sheds Light on Past Admixture Pulses.Molecular biology and evolution · 2023Article
- Article
- Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations.BMC biology · 2022Article
- Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens.Scientific reports · 2022Article
- Apportioning archaic variants among modern populations.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Article
- ABO Genetic Variation in Neanderthals and Denisovans.Molecular biology and evolution · 2021Article
- Quantifying the contribution of Neanderthal introgression to the heritability of complex traits.Nature communications · 2021Article
- Our Tangled Family Tree: New Genomic Methods Offer Insight into the Legacy of Archaic Admixture.Genome biology and evolution · 2021Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The time, extent, and genomic effect of the introgressions from archaic humans into ancestors of extant human populations remain some of the most exciting venues of population genetics research in the past decade. Several studies have shown population-specific signatures of introgression events from Neanderthals, Denisovans, and potentially other unknown hominin populations in different human groups. Moreover, it was shown that these introgression events may have contributed to phenotypic variation in extant humans, with biomedical and evolutionary consequences. In this study, we present a comprehensive analysis of the unusually divergent haplotypes in the Eurasian genomes and show that they can be traced back to multiple introgression events. In parallel, we document hundreds of deletion polymorphisms shared with Neanderthals. A locus-specific analysis of one such shared deletion suggests the existence of a direct introgression event from the Altai Neanderthal lineage into the ancestors of extant East Asian populations. Overall, our study is in agreement with the emergent notion that various Neanderthal populations contributed to extant human genetic variation in a population-specific manner.
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