ArticleGenome research2005
Fitting background-selection predictions to levels of nucleotide variation and divergence along the human autosomes.
Article in Genome research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Causal inference clarifies the roles of background selection and mutation rate variation in shaping human genetic diversity.bioRxiv : the preprint server for biology · 2026Article
- Human deleterious mutation rate slows adaptation and implies high fitness variance.bioRxiv : the preprint server for biology · 2025Article
- An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis.International journal of molecular sciences · 2023Article
- Article
- Article
- Human demographic history has amplified the effects of background selection across the genome.PLoS genetics · 2018Article
- Background selection as null hypothesis in population genomics: insights and challenges fromPhilosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Article
- Making sense of genomic islands of differentiation in light of speciation.Nature reviews. Genetics · 2017Review
- Variable Autosomal and X Divergence Near and Far from Genes Affects Estimates of Male Mutation Bias in Great Apes.Genome biology and evolution · 2016Article
- Joint Prediction of the Effective Population Size and the Rate of Fixation of Deleterious Mutations.Genetics · 2016Article
- Determining the Effect of Natural Selection on Linked Neutral Divergence across Species.PLoS genetics · 2016Article
- Fifteen years of genomewide scans for selection: trends, lessons and unaddressed genetic sources of complication.Molecular ecology · 2016Review
- Background selection as baseline for nucleotide variation across the Drosophila genome.PLoS genetics · 2014Article
- The case for junk DNA.PLoS genetics · 2014Article
- Natural selection reduced diversity on human y chromosomes.PLoS genetics · 2014Article
- A systematic approach to assessing the clinical significance of genetic variants.Clinical genetics · 2013Article
- A resolution of the mutation load paradox in humans.Genetics · 2012Article
- Evolutionary dynamics of co-segregating gene clusters associated with complex diseases.PloS one · 2012Article
- Review
- Evidence for hitchhiking of deleterious mutations within the human genome.PLoS genetics · 2011Article
Corrections and comments
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3 authors.
Funding
Abstract
The roles of positive directional selection (selective sweeps) and negative selection (background selection) in shaping the genome-wide distribution of genetic variation in humans remain largely unknown. Here, we optimize the parameter values of a model of the removal of deleterious mutations (background selection) to observed levels of human polymorphism, controlling for mutation rate heterogeneity by using interspecific divergence. A point of "best fit" was found between background-selection predictions and estimates of human effective population sizes, with reasonable parameter estimates whose uncertainty was assessed by bootstrapping. The results suggest that the purging of deleterious alleles has had some influence on shaping levels of human variation, although the effects may be subtle over the majority of the human genome. A significant relationship was found between background-selection predictions and measures of skew in the allele frequency distribution. The genome-wide action of selection (positive and/or negative) is required to explain this observation.
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