Evidence map›Paper›PMID 39563431›Full record

ReviewGenome biology2024

Considerations in the search for epistasis.

Marleen Balvert, Johnathan Cooper-Knock, Julian Stamp, Ross P Byrne, Soufiane Mourragui, Juami van Gils, Stefania Benonisdottir, Johannes Schlüter, Kevin Kenna, Sanne Abeln and 17 more

Erratum issuedAbstract readReview
In one paragraph

Review in Genome biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Can classical statistics and deep learning converge on explainable, causally driven target discovery?DNA research : an international journal for rapid publication of reports on genes and genomes · 2025
    Review
  8. Article
  9. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Marleen Balvert *Tilburg University, Tilburg, The Netherlands. m.balvert@tilburguniversity.edu.
Johnathan Cooper-Knock *SITraN, University of Sheffield, Sheffield, UK. j.cooper-knock@sheffield.ac.uk.ORCID 0000-0002-0873-8689
Julian StampBrown University, Providence, USA.
Ross P ByrneSmurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Soufiane MourraguiHubrecht Institute, Utrecht, The Netherlands.
Juami van GilsVrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Stefania BenonisdottirUniversity of Oxford, Oxford, UK.
Johannes SchlüterBielefeld University, Bielefeld, Germany.
Kevin KennaUMC Utrecht, Utrecht, The Netherlands.
Sanne AbelnUtrecht University, Utrecht, The Netherlands.
Alfredo IacoangeliDepartment of Biostatistics and Health Informatics, King's College London, London, UK.
Joséphine T DaubUtrecht University, Utrecht, The Netherlands.
Brian L BrowningUniversity of Washington, Seattle, USA.
Gizem TaşTilburg University, Tilburg, The Netherlands.
Jiajing HuDepartment of Biostatistics and Health Informatics, King's College London, London, UK.
Yan WangUMC Utrecht, Utrecht, The Netherlands.
Elham AlhathliSITraN, University of Sheffield, Sheffield, UK.
Calum HarveySITraN, University of Sheffield, Sheffield, UK.
Luna PianesiBielefeld University, Bielefeld, Germany.
Sara C SchulteAlgorithmic Bioinformatics and Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Jorge González-DomínguezCITIC, University of A Coruña, A Coruña, Spain.
Erik GarrissonUniversity of Tennessee, Knoxville, USA.
Lorentz workshop on epistasis
Michael P SnyderDepartment of Genetics, Stanford University, Stanford, USA.
Alexander Schönhuth *Bielefeld University, Bielefeld, Germany.
Letitia M F Sng *Commonwealth Scientific and Industrial Research Organisation, Westmead, Australia. letitia.sng@csiro.au.
Natalie A Twine *Commonwealth Scientific and Industrial Research Organisation, Westmead, Australia. Natalie.Twine@csiro.au.

Funding

PRODUCTION CENTER FOR MAPPING REGULATORY REGIONS OF THE HUMAN GENOMEUM1HG009442 · NHGRI · STANFORD UNIVERSITY · PI SNYDER, MICHAEL P. · 2017 to 2021
$20.1M
Stanford Islet Research CoreP30DK116074 · NIDDK · STANFORD UNIVERSITY · PI Seung K Kim · 2017 to 2026
$19.5M
Special EquipmentP50HG007735 · NHGRI · STANFORD UNIVERSITY · PI CHANG, HOWARD Y · 2014 to 2018
$15.2M
Signature Protein Profiles to Identify AAAsP50HL083800 · NHLBI · STANFORD UNIVERSITY · PI CONNOLLY, ANDREW J · 2006 to 2010
$13.7M
DNA Variants and AAA DiseaseR01HL101388 · NHLBI · STANFORD UNIVERSITY · PI TSAO, PHILIP S · 2010 to 2013
$1.6M
MicroRNA Regulation of Nicotine Accelerated AAAsR01HL122939 · NHLBI · PALO ALTO VETERANS INSTIT FOR RESEARCH · PI TSAO, PHILIP S · 2014 to 2017
$1.4M
Ultra high throughput sequencer for sustaining and enhancing multi-scale genomic studiesS10OD025212 · OD · STANFORD UNIVERSITY · PI SNYDER, MICHAEL P. · 2018 to 2018
$600k
NHGRI NIH HHS P50 HG007735NHGRI NIH HHS UM1 HG009442NHLBI NIH HHS P50 HL083800NHLBI NIH HHS R01 HL101388NHLBI NIH HHS R01 HL122939NIDDK NIH HHS P30 DK116074NIH HHS S10 OD025212Wellcome TrustWellcome Trust 216596/Z/19/Z
6 · The paper itself

Abstract

Epistasis refers to changes in the effect on phenotype of a unit of genetic information, such as a single nucleotide polymorphism or a gene, dependent on the context of other genetic units. Such interactions are both biologically plausible and good candidates to explain observations which are not fully explained by an additive heritability model. However, the search for epistasis has so far largely failed to recover this missing heritability. We identify key challenges and propose that future works need to leverage idealized systems, known biology and even previously identified epistatic interactions, in order to guide the search for new interactions.

Indexed as

Epistasis, GeneticModels, GeneticHumansPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID39563431
PMCPMC11574992

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.