Evidence map›Paper›PMID 36196994›Full record

ArticleeLife2023

Broad-scale variation in human genetic diversity levels is predicted by purifying selection on coding and non-coding elements.

David A Murphy, Eyal Elyashiv, Guy Amster, Guy Sella

Open access · goldAbstract read
In one paragraph

Article in eLife, 2023. 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
9.4field-weighted citation impact, top 2% of its field
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, 55 citations in OpenAlex.

  1. Review
  2. Evolution of quantitative traits with background selection.Proceedings of the National Academy of Sciences of the United States of America · 2026
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  7. Background selection in recombining genomes and its consequences for the maintenance of variation in complex traits.Proceedings of the National Academy of Sciences of the United States of America · 2026
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  8. ThebioRxiv : the preprint server for biology · 2026
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  14. A model for background selection in non-equilibrium populations.bioRxiv : the preprint server for biology · 2025
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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 at 4 institutions in 2 countries.

David A MurphyDepartment of Biological Sciences, Columbia University, New York, United States.ORCID https://orcid.org/0000-0002-0715-3355
Eyal ElyashivDepartment of Biological Sciences, Columbia University, New York, United States.
Guy AmsterDepartment of Biological Sciences, Columbia University, New York, United States.ORCID https://orcid.org/0000-0002-9108-5200
Guy SellaDepartment of Biological Sciences, Columbia University, New York, United States.ORCID https://orcid.org/0000-0002-5239-7930
Columbia University · USFlatiron Health (United States) · USGenomics (United Kingdom) · GBOklahoma Medical Research Foundation · US

Funding

CELLULAR AND MOLECULAR FOUNDATIONS OF BIOMEDICAL SCIENCET32GM008798 · NIGMS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI PRYWES, RON M · 2001 to 2018
$6.3M
The population genetics of disease risk and other quantitative traitsR01GM115889 · NIGMS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI SELLA, GUY · 2015 to 2025
$2.9M
NIGMS NIH HHS R01 GM115889NIH HHS GM115889NIH HHS T32GM008798
6 · The paper itself

Abstract

Analyses of genetic variation in many taxa have established that neutral genetic diversity is shaped by natural selection at linked sites. Whether the mode of selection is primarily the fixation of strongly beneficial alleles (selective sweeps) or purifying selection on deleterious mutations (background selection) remains unknown, however. We address this question in humans by fitting a model of the joint effects of selective sweeps and background selection to autosomal polymorphism data from the 1000 Genomes Project. After controlling for variation in mutation rates along the genome, a model of background selection alone explains ~60% of the variance in diversity levels at the megabase scale. Adding the effects of selective sweeps driven by adaptive substitutions to the model does not improve the fit, and when both modes of selection are considered jointly, selective sweeps are estimated to have had little or no effect on linked neutral diversity. The regions under purifying selection are best predicted by phylogenetic conservation, with ~80% of the deleterious mutations affecting neutral diversity occurring in non-exonic regions. Thus, background selection is the dominant mode of linked selection in humans, with marked effects on diversity levels throughout autosomes.

Indexed as

Histological TechniquesMutation RateAllelesEvolution, MolecularGenetic VariationHumansModels, GeneticPhylogenyPolymorphism, GeneticSelection, GeneticBackground selectiondemographic historyevolutionary biologygeneticsgenomicshumanneutral diversitypositive selectionpurifying selectionSelective sweeps

Identifiers

PMID36196994
PMCPMC10299832
OpenAlexW4301606380

What Socratic holds

Textmetadata
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 Socratic graph.