ArticleGenome biology and evolution2018
Signatures of Long-Term Balancing Selection in Human Genomes.
Article in Genome biology and evolution, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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Who cites it
76 citing papers in PubMed, 154 citations in OpenAlex.
- Characterizing the detectable and invisible fractions of genomic loci under balancing selection.Molecular biology and evolution · 2026Article
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- What has population genomics told us about the dynamics of selection and plant adaptation?Molecular biology and evolution · 2026Review
- Tandem repeat variation within and between species reveals signatures of selection in humans and chimpanzees.bioRxiv : the preprint server for biology · 2026Article
- Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles.American journal of human genetics · 2026Article
- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- Overdominance for fitness: a genomic comparison between empirical and simulated data with Drosophila melanogaster.Genetics · 2026Article
- A century of theories of balancing selection.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Genetic Footprints of Seasonal Fluctuating Selection: A Comparison With Established Selection Forms.Genome biology and evolution · 2026Article
- Whole-Genome Data to Investigate Recent and Historical Dog Introgression Patterns in Italian Wolves.Ecology and evolution · 2025Article
- Sialyl-T Antigen: A Novel Red Blood Cell Determinant for Plasmodium falciparum Invasion.American journal of hematology · 2025Article
- Inbreeding does not reduce major histocompatibility complex diversity in the banded mongoose.BMC ecology and evolution · 2025Article
- Article
- Genetics of recombination rate variation within and between species.Journal of evolutionary biology · 2025Article
- High resolution class I HLA-A, -B, and -C diversity in Eastern and Southern African populations.Scientific reports · 2025Article
- Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025Article
- Article
- Heterozygous and generalist MxA super-restrictors overcome breadth-specificity trade-offs in antiviral restriction.Science advances · 2025Article
- Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers.Evolutionary applications · 2025Article
- C5L2 gene polymorphisms and their functional interaction with metabolic-inflammatory networks in T2DM-associated CHD: insights from an integrative genetic and clinical analysis in a Chinese population.Frontiers in cardiovascular medicine · 2025Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Balancing selection maintains advantageous diversity in populations through various mechanisms. Although extensively explored from a theoretical perspective, an empirical understanding of its prevalence and targets lags behind our knowledge of positive selection. Here, we describe the Non-central Deviation (NCD), a simple yet powerful statistic to detect long-term balancing selection (LTBS) that quantifies how close frequencies are to expectations under LTBS, and provides the basis for a neutrality test. NCD can be applied to a single locus or genomic data, and can be implemented considering only polymorphisms (NCD1) or also considering fixed differences with respect to an outgroup (NCD2) species. Incorporating fixed differences improves power, and NCD2 has higher power to detect LTBS in humans under different frequencies of the balanced allele(s) than other available methods. Applied to genome-wide data from African and European human populations, in both cases using chimpanzee as an outgroup, NCD2 shows that, albeit not prevalent, LTBS affects a sizable portion of the genome: ∼0.6% of analyzed genomic windows and 0.8% of analyzed positions. Significant windows (P < 0.0001) contain 1.6% of SNPs in the genome, which disproportionally fall within exons and change protein sequence, but are not enriched in putatively regulatory sites. These windows overlap ∼8% of the protein-coding genes, and these have larger number of transcripts than expected by chance even after controlling for gene length. Our catalog includes known targets of LTBS but a majority of them (90%) are novel. As expected, immune-related genes are among those with the strongest signatures, although most candidates are involved in other biological functions, suggesting that LTBS potentially influences diverse human phenotypes.
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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.