ReviewGenome research2012
Human genomic disease variants: a neutral evolutionary explanation.
Review in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed.
- Uncovering genetic variation in humoral inborn errors of immunity in African populations: insights from the African genome variation database.Scientific reports · 2026Article
- A new perspective on population genetics: Deciphering the relationship between genetic variants and disease prevalence in Psoriasis.PloS one · 2026Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- Regionally enriched rare deleterious exonic variants in the UK and Ireland.Nature communications · 2024Article
- Article
- Nutrigenomics and redox regulation: Concepts relating to the Special Issue on nutrigenomics.Redox biology · 2023Review
- Article
- Somatic selection distinguishes oncogenes and tumor suppressor genes.Bioinformatics (Oxford, England) · 2020Article
- Bayesian estimation of genetic regulatory effects in high-throughput reporter assays.Bioinformatics (Oxford, England) · 2020Article
- Genome-wide analysis indicates association between heterozygote advantage and healthy aging in humans.BMC genetics · 2019Article
- Neutral Theory, Disease Mutations, and Personal Exomes.Molecular biology and evolution · 2018Article
- γ2 GABAFrontiers in cellular neuroscience · 2018Review
- De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.BMC genomics · 2017Article
- Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.Human molecular genetics · 2017Article
- Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.Human genetics · 2017Article
- Evolution-informed modeling improves outcome prediction for cancers.Evolutionary applications · 2017Article
- Understanding rare and common diseases in the context of human evolution.Genome biology · 2016Review
- e-GRASP: an integrated evolutionary and GRASP resource for exploring disease associations.BMC genomics · 2016Article
- Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection.Molecular biology and evolution · 2016Article
- A Molecular Evolutionary Reference for the Human Variome.Molecular biology and evolution · 2016Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Many perspectives on the role of evolution in human health include nonempirical assumptions concerning the adaptive evolutionary origins of human diseases. Evolutionary analyses of the increasing wealth of clinical and population genomic data have begun to challenge these presumptions. In order to systematically evaluate such claims, the time has come to build a common framework for an empirical and intellectual unification of evolution and modern medicine. We review the emerging evidence and provide a supporting conceptual framework that establishes the classical neutral theory of molecular evolution (NTME) as the basis for evaluating disease- associated genomic variations in health and medicine. For over a decade, the NTME has already explained the origins and distribution of variants implicated in diseases and has illuminated the power of evolutionary thinking in genomic medicine. We suggest that a majority of disease variants in modern populations will have neutral evolutionary origins (previously neutral), with a relatively smaller fraction exhibiting adaptive evolutionary origins (previously adaptive). This pattern is expected to hold true for common as well as rare disease variants. Ultimately, a neutral evolutionary perspective will provide medicine with an informative and actionable framework that enables objective clinical assessment beyond convenient tendencies to invoke past adaptive events in human history as a root cause of human disease.
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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.