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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BMC
2024-11-01
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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. |
format | Article |
id | doaj-art-b474a576126e4691988acae1b1be2c19 |
institution | Kabale University |
issn | 1474-760X |
language | English |
publishDate | 2024-11-01 |
publisher | BMC |
record_format | Article |
series | Genome Biology |
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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