Evidence map›Paper›PMID 34888675›Full record

ArticleMolecular biology and evolution2022

A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Hussein A Hejase, Ziyi Mo, Leonardo Campagna, Adam Siepel

Abstract read
In one paragraph

Article in Molecular biology and evolution, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

58 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. The persistence and loss of hard selective sweeps amid admixture in ancient Eurasians.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  6. Graph transformer for ancient ancestry inference.bioRxiv : the preprint server for biology · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Selection scans and downstream analysis with selscan.Human population genetics and genomics · 2026
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Selection scans and downstream analysis with selscan.bioRxiv : the preprint server for biology · 2025
    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

4 authors.

Hussein A HejaseSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Ziyi MoSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.ORCID 0000-0002-4567-6720
Leonardo CampagnaFuller Evolutionary Biology Program, Cornell Lab of Ornithology, Ithaca, NY, USA.ORCID 0000-0001-8408-8553
Adam SiepelSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.ORCID 0000-0002-3557-7219

Funding

Evolutionary Human Genomics: Demography, Natural Selection, and Transcriptional RegulationR35GM127070 · NIGMS · COLD SPRING HARBOR LABORATORY · PI Adam Charles Siepel · 2018 to 2026
$4.7M
NIGMS NIH HHS R35 GM127070
6 · The paper itself

Abstract

Detecting signals of selection from genomic data is a central problem in population genetics. Coupling the rich information in the ancestral recombination graph (ARG) with a powerful and scalable deep-learning framework, we developed a novel method to detect and quantify positive selection: Selection Inference using the Ancestral recombination graph (SIA). Built on a Long Short-Term Memory (LSTM) architecture, a particular type of a Recurrent Neural Network (RNN), SIA can be trained to explicitly infer a full range of selection coefficients, as well as the allele frequency trajectory and time of selection onset. We benchmarked SIA extensively on simulations under a European human demographic model, and found that it performs as well or better as some of the best available methods, including state-of-the-art machine-learning and ARG-based methods. In addition, we used SIA to estimate selection coefficients at several loci associated with human phenotypes of interest. SIA detected novel signals of selection particular to the European (CEU) population at the MC1R and ABCC11 loci. In addition, it recapitulated signals of selection at the LCT locus and several pigmentation-related genes. Finally, we reanalyzed polymorphism data of a collection of recently radiated southern capuchino seedeater taxa in the genus Sporophila to quantify the strength of selection and improved the power of our previous methods to detect partial soft sweeps. Overall, SIA uses deep learning to leverage the ARG and thereby provides new insight into how selective sweeps shape genomic diversity.

Indexed as

Deep LearningSelection, GeneticGenetics, PopulationModels, GeneticRecombination, Geneticancestral recombination graphmachine learningpositive selectionselective sweep

Identifiers

PMID34888675
PMCPMC8789311

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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.