Evidence map›Paper›PMID 26317225›Full record

ArticlePLoS genetics2015

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.

Daniel J Balick, Ron Do, Christopher A Cassa, David Reich, Shamil R Sunyaev

Abstract read
In one paragraph

Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing 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

53 citing papers in PubMed.

  1. Dynamics of mutators of arbitrary dominance in humans.bioRxiv : the preprint server for biology · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Revisiting Dominance in Population Genetics.Genome biology and evolution · 2024
    Review
  9. Article
  10. Article
  11. A deep catalog of protein-coding variation in 985,830 individuals.bioRxiv : the preprint server for biology · 2023
    Article
  12. Article
  13. Article
  14. Digest: Few new mutations are recessive lethal.Evolution; international journal of organic evolution · 2023
    Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Purging of deleterious burden in the endangered Iberian lynx.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  20. Article
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

5 authors.

Daniel J BalickDivision of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
Ron DoBroad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; The Center for Statistical Genetics, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Christopher A CassaDivision of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
David ReichBroad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America; Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, United States of America.
Shamil R SunyaevDivision of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.

Funding

Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
New Methods and Enhanced Software for Predicting Functional SNPsR01GM078598 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI SUNYAEV, SHAMIL · 2007 to 2017
$3.5M
Population mixture in evolutionary and medical geneticsR01GM100233 · NIGMS · HARVARD MEDICAL SCHOOL · PI PATTERSON, NICK J, REICH, DAVID E · 2012 to 2019
$2.7M
Improving Polygenic Prediction using Next-Generation Data SetsR01GM105857 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI SUNYAEV, SHAMIL · 2014 to 2017
$2.0M
Clinical prioritization of reported disease variants in asymptomatic individualsR00HG007229 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASSA, CHRISTOPHER · 2015 to 2017
$747k
Clinical prioritization of reported disease variants in asymptomatic individualsK99HG007229 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASSA, CHRISTOPHER · 2013 to 2014
$218k
Howard Hughes Medical InstituteNHGRI NIH HHS HG006399NHGRI NIH HHS K99 HG007229NHGRI NIH HHS R00 HG007229NHGRI NIH HHS R01 HG006399NIGMS NIH HHS R01 GM078598NIGMS NIH HHS R01 GM100233NIGMS NIH HHS R01 GM105857NIMH NIH HHS R01 MH101244
6 · The paper itself

Abstract

Population bottlenecks followed by re-expansions have been common throughout history of many populations. The response of alleles under selection to such demographic perturbations has been a subject of great interest in population genetics. On the basis of theoretical analysis and computer simulations, we suggest that this response qualitatively depends on dominance. The number of dominant or additive deleterious alleles per haploid genome is expected to be slightly increased following the bottleneck and re-expansion. In contrast, the number of completely or partially recessive alleles should be sharply reduced. Changes of population size expose differences between recessive and additive selection, potentially providing insight into the prevalence of dominance in natural populations. Specifically, we use a simple statistic, [Formula: see text], where xi represents the derived allele frequency, to compare the number of mutations in different populations, and detail its functional dependence on the strength of selection and the intensity of the population bottleneck. We also provide empirical evidence showing that gene sets associated with autosomal recessive disease in humans may have a BR indicative of recessive selection. Together, these theoretical predictions and empirical observations show that complex demographic history may facilitate rather than impede inference of parameters of natural selection.

Indexed as

AnimalsBiological EvolutionComputer SimulationGene FrequencyGenes, DominantGenetics, PopulationHumansModels, GeneticModels, StatisticalPopulation DynamicsSelection, Genetic

Identifiers

PMID26317225
PMCPMC4552954

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.