ArticlePLoS genetics2014
A model-based approach for identifying signatures of ancient balancing selection in genetic data.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 1 of them a synthesis that pooled it.
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Who cites it
100 citing papers in PubMed, 1 synthesis or guideline pooled it, 213 citations in OpenAlex.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Characterizing the detectable and invisible fractions of genomic loci under balancing selection.Molecular biology and evolution · 2026Article
- What has population genomics told us about the dynamics of selection and plant adaptation?Molecular biology and evolution · 2026Review
- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- Divergent cis-regulatory haplotypes at Tlr2 are associated with immune responsiveness.Molecular biology and evolution · 2026Article
- Detecting Positive Selection by Modeling Structure Within Images of Genetic Variation.Genome biology and evolution · 2026Article
- A century of theories of balancing selection.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Long-term evolutionary persistence of a cryptic color polymorphism in frogs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Unravelling Heterozygosity-Rich Regions in the Holstein Genome.Animals : an open access journal from MDPI · 2025Article
- Isolation effects and soil properties drive genetic differentiation in Ormosia microphylla populations.Scientific reports · 2025Article
- Article
- Computational Genomics and Its Applications to Anthropological Questions.American journal of biological anthropology · 2024Review
- Full-resolution HLA and KIR gene annotations for human genome assemblies.Genome research · 2024Article
- Population Genomic Scans for Natural Selection and Demography.Annual review of genetics · 2024Review
- Polymorphism-Aware Models in RevBayes: Species Trees, Disentangling Balancing Selection, and GC-Biased Gene Conversion.Molecular biology and evolution · 2024Article
- Temporal challenges in detecting balancing selection from population genomic data.G3 (Bethesda, Md.) · 2024Article
- The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection.Genome biology and evolution · 2024Article
- Full resolution HLA and KIR genes annotation for human genome assemblies.bioRxiv : the preprint server for biology · 2024Article
- CEGA: a method for inferring natural selection by comparative population genomic analysis across species.Genome biology · 2023Article
- Balancing selection on an MYB transcription factor maintains the twig trichome color variation in Melastoma normale.BMC biology · 2023Article
40 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 3 institutions in 2 countries.
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Abstract
While much effort has focused on detecting positive and negative directional selection in the human genome, relatively little work has been devoted to balancing selection. This lack of attention is likely due to the paucity of sophisticated methods for identifying sites under balancing selection. Here we develop two composite likelihood ratio tests for detecting balancing selection. Using simulations, we show that these methods outperform competing methods under a variety of assumptions and demographic models. We apply the new methods to whole-genome human data, and find a number of previously-identified loci with strong evidence of balancing selection, including several HLA genes. Additionally, we find evidence for many novel candidates, the strongest of which is FANK1, an imprinted gene that suppresses apoptosis, is expressed during meiosis in males, and displays marginal signs of segregation distortion. We hypothesize that balancing selection acts on this locus to stabilize the segregation distortion and negative fitness effects of the distorter allele. Thus, our methods are able to reproduce many previously-hypothesized signals of balancing selection, as well as discover novel interesting candidates.
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