ArticlePLoS genetics2013
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.Hypertension (Dallas, Tex. : 1979) · 2022Pooled it
- Inference of elevated mutation rates and variant effects using 700k exomes.bioRxiv : the preprint server for biology · 2026Article
- Leveraging ancestral recombination graphs for scalable mixed-model analysis of complex traits.Cell genomics · 2026Article
- Tracing the evolutionary histories of ultra-rare variants using variational dating of large ancestral recombination graphs.bioRxiv : the preprint server for biology · 2026Article
- Identifying Single-Origin Rare Variants in Population Genomic Data.Molecular biology and evolution · 2025Article
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- Incorporating genetic load contributes to predicting Arabidopsis thaliana's response to climate change.Nature communications · 2025Article
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- A Damaging COL6A3 Variant Alters the MIR31HG-Regulated Response of Chondrocytes in Neocartilage Organoids to Hyperphysiologic Mechanical Loading.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Forces driving transposable element load variation during Arabidopsis range expansion.The Plant cell · 2024Article
- Inbreeding depression is associated with recent homozygous-by-descent segments in Belgian Blue beef cattle.Genetics, selection, evolution : GSE · 2024Article
- Elevated incidence of somatic mutations at prevalent genetic sites.Briefings in bioinformatics · 2024Article
- Inference of Coalescence Times and Variant Ages Using Convolutional Neural Networks.Molecular biology and evolution · 2023Article
- Article
- Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.PloS one · 2022Article
- High-impactScience advances · 2021Article
- Maintenance of Complex Trait Variation: Classic Theory and Modern Data.Frontiers in genetics · 2021Review
- A variant-centric perspective on geographic patterns of human allele frequency variation.eLife · 2020Article
- Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations.Nature communications · 2020Article
- Article
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13 authors.
Funding
Abstract
Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify, among the myriad alleles, those variants that have an effect on molecular function, phenotypes, and reproductive fitness. Most non-neutral variation consists of deleterious alleles segregating at low population frequency due to incessant mutation. To date, studies characterizing selection against deleterious alleles have been based on allele frequency (testing for a relative excess of rare alleles) or ratio of polymorphism to divergence (testing for a relative increase in the number of polymorphic alleles). Here, starting from Maruyama's theoretical prediction (Maruyama T (1974), Am J Hum Genet USA 6:669-673) that a (slightly) deleterious allele is, on average, younger than a neutral allele segregating at the same frequency, we devised an approach to characterize selection based on allelic age. Unlike existing methods, it compares sets of neutral and deleterious sequence variants at the same allele frequency. When applied to human sequence data from the Genome of the Netherlands Project, our approach distinguishes low-frequency coding non-synonymous variants from synonymous and non-coding variants at the same allele frequency and discriminates between sets of variants independently predicted to be benign or damaging for protein structure and function. The results confirm the abundance of slightly deleterious coding variation in humans.
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