ArticleeLife2023
The lingering effects of Neanderthal introgression on human complex traits.
Article in eLife, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- Ancient DNA and Human Physiology.Physiology (Bethesda, Md.) · 2026Review
- A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Limited Selection on Neanderthal DNA in 30,780 Recently Admixed Genomes with African-like Ancestry.Molecular biology and evolution · 2026Article
- Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania.Science (New York, N.Y.) · 2026Article
- Genomic approaches for understanding the evolution of the human brain.Nature neuroscience · 2026Review
- Ancient regulatory evolution shapes individual language abilities in present-day humans.Science advances · 2026Article
- Recovering signatures of archaic introgression using ancestral recombination graphs.bioRxiv : the preprint server for biology · 2026Article
- Comparing Neanderthal Introgression Maps Reveals Core Agreement But Substantial Heterogeneity.Molecular biology and evolution · 2026Article
- Ancient regulatory evolution shapes individual language abilities in present-day humans.bioRxiv : the preprint server for biology · 2026Article
- The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions.bioRxiv : the preprint server for biology · 2026Article
- Comparing Neanderthal introgression maps reveals core agreement but substantial heterogeneity.bioRxiv : the preprint server for biology · 2025Article
- Archaic introgression and the distribution of shared variation under stabilizing selection.PLoS genetics · 2025Article
- Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics.Genes, brain, and behavior · 2025Review
- Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025Review
- The trait-specific timing of accelerated genomic change in the human lineage.Cell genomics · 2025Article
- Hybrid adaptation is hampered by Haldane's sieve.Nature communications · 2024Article
- Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.Molecular psychiatry · 2024Article
- A scalable and robust variance components method reveals insights into the architecture of gene-environment interactions underlying complex traits.American journal of human genetics · 2024Article
- Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians.Biological research · 2023Article
- The genetic architecture and evolution of the human skeletal form.Science (New York, N.Y.) · 2023Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
The genetic variants introduced into the ancestors of modern humans from interbreeding with Neanderthals have been suggested to contribute an unexpected extent to complex human traits. However, testing this hypothesis has been challenging due to the idiosyncratic population genetic properties of introgressed variants. We developed rigorous methods to assess the contribution of introgressed Neanderthal variants to heritable trait variation and applied these methods to analyze 235,592 introgressed Neanderthal variants and 96 distinct phenotypes measured in about 300,000 unrelated white British individuals in the UK Biobank. Introgressed Neanderthal variants make a significant contribution to trait variation (explaining 0.12% of trait variation on average). However, the contribution of introgressed variants tends to be significantly depleted relative to modern human variants matched for allele frequency and linkage disequilibrium (about 59% depletion on average), consistent with purifying selection on introgressed variants. Different from previous studies (McArthur et al., 2021), we find no evidence for elevated heritability across the phenotypes examined. We identified 348 independent significant associations of introgressed Neanderthal variants with 64 phenotypes. Previous work (Skov et al., 2020) has suggested that a majority of such associations are likely driven by statistical association with nearby modern human variants that are the true causal variants. Applying a customized fine-mapping led us to identify 112 regions across 47 phenotypes containing 4303 unique genetic variants where introgressed variants are highly likely to have a phenotypic effect. Examination of these variants reveals their substantial impact on genes that are important for the immune system, development, and metabolism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.