Evidence map›Paper›PMID 23770700›Full record

ArticleGenetics2013

Learning natural selection from the site frequency spectrum.

Roy Ronen, Nitin Udpa, Eran Halperin, Vineet Bafna

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 70 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 1 pooled it
–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

70 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Neural posterior estimation for population genetics.bioRxiv : the preprint server for biology · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Digital Image Processing to Detect Adaptive Evolution.Molecular biology and evolution · 2024
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. IntroUNET: identifying introgressed alleles via semantic segmentation.bioRxiv : the preprint server for biology · 2024
    Article
  20. Article

10 more citing papers are in PubMed but not listed here.

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.

Roy RonenBioinformatics and Systems Biology Program, University of California, San Diego, California 92093.
Nitin Udpa
Eran Halperin
Vineet Bafna

Funding

Algorithmic strategies for detecting structural variation in genomesR01HG004962 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET · 2009 to 2012
$1.3M
NHGRI NIH HHS 5R01-HG004962NHGRI NIH HHS R01 HG004962
6 · The paper itself

Abstract

Genetic adaptation to external stimuli occurs through the combined action of mutation and selection. A central problem in genetics is to identify loci responsive to specific selective constraints. Many tests have been proposed to identify the genomic signatures of natural selection by quantifying the skew in the site frequency spectrum (SFS) under selection relative to neutrality. We build upon recent work that connects many of these tests under a common framework, by describing how selective sweeps affect the scaled SFS. We show that the specific skew depends on many attributes of the sweep, including the selection coefficient and the time under selection. Using supervised learning on extensive simulated data, we characterize the features of the scaled SFS that best separate different types of selective sweeps from neutrality. We develop a test, SFselect, that consistently outperforms many existing tests over a wide range of selective sweeps. We apply SFselect to polymorphism data from a laboratory evolution experiment of Drosophila melanogaster adapted to hypoxia and identify loci that strengthen the role of the Notch pathway in hypoxia tolerance, but were missed by previous approaches. We further apply our test to human data and identify regions that are in agreement with earlier studies, as well as many novel regions.

Indexed as

Gene FrequencyGenetic LociModels, GeneticSelection, GeneticAdaptation, PhysiologicalAnimalsDrosophila melanogasterDrosophila ProteinsEvolution, MolecularHumansHypoxiaPolymorphism, GeneticPopulationReceptors, NotchDrosophila ProteinsN protein, DrosophilaReceptors, Notchnatural selectionsite frequency spectrumsupervised learning

Identifiers

PMID23770700
PMCPMC3761300

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.