Genome Biology (Nov 2024)
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,
- Alfredo Iacoangeli,
- Joséphine T. Daub,
- Brian L. Browning,
- Gizem Taş,
- Jiajing Hu,
- Yan Wang,
- Elham Alhathli,
- Calum Harvey,
- Luna Pianesi,
- Sara C. Schulte,
- Jorge González-Domínguez,
- Erik Garrisson,
- Lorentz workshop on epistasis,
- Michael P. Snyder,
- Alexander Schönhuth,
- Letitia M. F. Sng,
- Natalie A. Twine
Affiliations
- Marleen Balvert
- Tilburg University
- Johnathan Cooper-Knock
- SITraN, University of Sheffield
- Julian Stamp
- Brown University
- Ross P. Byrne
- Smurfit Institute of Genetics, Trinity College Dublin
- Soufiane Mourragui
- Hubrecht Institute
- Juami van Gils
- Vrije Universiteit Amsterdam
- Stefania Benonisdottir
- University of Oxford
- Johannes Schlüter
- Bielefeld University
- Kevin Kenna
- UMC Utrecht
- Sanne Abeln
- Tilburg University
- Alfredo Iacoangeli
- Department of Biostatistics and Health Informatics, King’s College London
- Joséphine T. Daub
- UMC Utrecht
- Brian L. Browning
- University of Washington
- Gizem Taş
- Tilburg University
- Jiajing Hu
- Department of Biostatistics and Health Informatics, King’s College London
- Yan Wang
- UMC Utrecht
- Elham Alhathli
- SITraN, University of Sheffield
- Calum Harvey
- SITraN, University of Sheffield
- Luna Pianesi
- Bielefeld University
- Sara C. Schulte
- Algorithmic Bioinformatics and Center for Digital Medicine, Heinrich Heine University
- Jorge González-Domínguez
- CITIC, University of A Coruña
- Erik Garrisson
- University of Tennessee
- Lorentz workshop on epistasis
- Michael P. Snyder
- Department of Genetics, Stanford University
- Alexander Schönhuth
- Bielefeld University
- Letitia M. F. Sng
- Commonwealth Scientific and Industrial Research Organisation
- Natalie A. Twine
- Commonwealth Scientific and Industrial Research Organisation
- DOI
- https://doi.org/10.1186/s13059-024-03427-z
- Journal volume & issue
-
Vol. 25,
no. 1
pp. 1 – 17
Abstract
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.
