Considerations in the search for epistasis

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 a...

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Main Authors: 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
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Genome Biology
Online Access:https://doi.org/10.1186/s13059-024-03427-z
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author 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
author_facet 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
author_sort Marleen Balvert
collection DOAJ
description 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.
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spelling doaj-art-b474a576126e4691988acae1b1be2c192025-01-26T12:36:04ZengBMCGenome Biology1474-760X2024-11-0125111710.1186/s13059-024-03427-zConsiderations in the search for epistasisMarleen Balvert0Johnathan Cooper-Knock1Julian Stamp2Ross P. Byrne3Soufiane Mourragui4Juami van Gils5Stefania Benonisdottir6Johannes Schlüter7Kevin Kenna8Sanne Abeln9Alfredo Iacoangeli10Joséphine T. Daub11Brian L. Browning12Gizem Taş13Jiajing Hu14Yan Wang15Elham Alhathli16Calum Harvey17Luna Pianesi18Sara C. Schulte19Jorge González-Domínguez20Erik Garrisson21Lorentz workshop on epistasisMichael P. Snyder22Alexander Schönhuth23Letitia M. F. Sng24Natalie A. Twine25Tilburg UniversitySITraN, University of SheffieldBrown UniversitySmurfit Institute of Genetics, Trinity College DublinHubrecht InstituteVrije Universiteit AmsterdamUniversity of OxfordBielefeld UniversityUMC UtrechtUtrecht UniversityDepartment of Biostatistics and Health Informatics, King’s College LondonUtrecht UniversityUniversity of WashingtonTilburg UniversityDepartment of Biostatistics and Health Informatics, King’s College LondonUMC UtrechtSITraN, University of SheffieldSITraN, University of SheffieldBielefeld UniversityAlgorithmic Bioinformatics and Center for Digital Medicine, Heinrich Heine UniversityCITIC, University of A CoruñaUniversity of TennesseeDepartment of Genetics, Stanford UniversityBielefeld UniversityCommonwealth Scientific and Industrial Research OrganisationCommonwealth Scientific and Industrial Research OrganisationAbstract 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.https://doi.org/10.1186/s13059-024-03427-z
spellingShingle 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
Considerations in the search for epistasis
Genome Biology
title Considerations in the search for epistasis
title_full Considerations in the search for epistasis
title_fullStr Considerations in the search for epistasis
title_full_unstemmed Considerations in the search for epistasis
title_short Considerations in the search for epistasis
title_sort considerations in the search for epistasis
url https://doi.org/10.1186/s13059-024-03427-z
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