Evidence map›Paper›PMID 23979573›Full record

ArticleGenetics2013

Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect.

Elodie Gazave, Diana Chang, Andrew G Clark, Alon Keinan

Abstract read
In one paragraph

Article in Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

49 citing papers in PubMed.

  1. Pervasive cryptic selection in the human noncoding genome.bioRxiv : the preprint server for biology · 2026
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  19. Evolution and Genetic Diversity of theAntimicrobial agents and chemotherapy · 2019
    Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Elodie GazaveDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853.
Diana Chang
Andrew G Clark
Alon Keinan

Funding

Population Structure Admixture and Selection across the 1000 Genomes Data SetU01HG005715 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL, CLARK, ANDREW G · 2010 to 2012
$1.1M
NHGRI NIH HHS U01 HG005715NHGRI NIH HHS U01-HG005715
6 · The paper itself

Abstract

This study addresses the question of how purifying selection operates during recent rapid population growth such as has been experienced by human populations. This is not a straightforward problem because the human population is not at equilibrium: population genetics predicts that, on the one hand, the efficacy of natural selection increases as population size increases, eliminating ever more weakly deleterious variants; on the other hand, a larger number of deleterious mutations will be introduced into the population and will be more likely to increase in their number of copies as the population grows. To understand how patterns of human genetic variation have been shaped by the interaction of natural selection and population growth, we examined the trajectories of mutations with varying selection coefficients, using computer simulations. We observed that while population growth dramatically increases the number of deleterious segregating sites in the population, it only mildly increases the number carried by each individual. Our simulations also show an increased efficacy of natural selection, reflected in a higher fraction of deleterious mutations eliminated at each generation and a more efficient elimination of the most deleterious ones. As a consequence, while each individual carries a larger number of deleterious alleles than expected in the absence of growth, the average selection coefficient of each segregating allele is less deleterious. Combined, our results suggest that the genetic risk of complex diseases in growing populations might be distributed across a larger number of more weakly deleterious rare variants.

Indexed as

Genetics, PopulationModels, GeneticMutationPopulation GrowthAllelesChromosomes, HumanComputer SimulationGenetic FitnessHumansPopulation DensitySelection, Geneticdeleterious mutationsdemographic historyexponential growthhumanpurifying selection

Identifiers

PMID23979573
PMCPMC3813877

What OpenQuestion holds

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Registered trials

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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.