TY - JOUR
T1 - Considerations in the search for epistasis
AU - Balvert, Marleen
AU - Cooper-Knock, Johnathan
AU - Stamp, Julian
AU - Byrne, Ross P.
AU - Mourragui, Soufiane
AU - van Gils, Juami
AU - Benonisdottir, Stefania
AU - Schlüter, Johannes
AU - Kenna, Kevin
AU - Abeln, Sanne
AU - Iacoangeli, Alfredo
AU - Daub, Joséphine T.
AU - Browning, Brian L.
AU - Taş, Gizem
AU - Hu, Jiajing
AU - Wang, Yan
AU - Alhathli, Elham
AU - Harvey, Calum
AU - Pianesi, Luna
AU - Schulte, Sara C.
AU - González-Domínguez, Jorge
AU - Garrisson, Erik
AU - Pasanuic, Bogdan
AU - Zhang, Sai
AU - Vorbrugg, Sebastian
AU - van Bemmelen, Jasper
AU - Dandinasivara, Raghuram
AU - Markowska, Magda
AU - Koyuturk, Mehmet
AU - Guarracino, Andrea
AU - Bonizzoni, Paola
AU - Bolognini, Davide
AU - von Berg, Joanna
AU - Baaijens, Jasmijn
AU - Cartes, Jorge Avila
AU - Al-Chalabi, Ammar
AU - Snyder, Michael P.
AU - Schönhuth, Alexander
AU - Sng, Letitia M.F.
AU - Twine, Natalie A.
AU - Lorentz workshop on epistasis
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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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U2 - 10.1186/s13059-024-03427-z
DO - 10.1186/s13059-024-03427-z
M3 - Review article
C2 - 39563431
AN - SCOPUS:85210027153
SN - 1474-7596
VL - 25
SP - 1
EP - 17
JO - Genome Biology
JF - Genome Biology
IS - 1
M1 - 296
ER -