Results 21 to 30 of about 27,549 (205)

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Scientific Reports, 2022
Common variants in RET and NRG1 have been associated with Hirschsprung disease (HSCR), a congenital disorder characterised by incomplete innervation of distal gut, in East Asian (EA) populations.
Yanbing Wang, Timothy Shin Heng Mak, Saloni Dattani, Maria-Merce Garcia-Barcelo, Alexander Xi Fu, Kevin Y. Yip, Elly Sau-Wai Ngan, Paul Kwang-Hang Tam, Clara Sze-Man Tang, Pak Chung Sham   +9 more
doaj   +1 more source

Hidden epistastic interactions can favour the evolution of sex and recombination. [PDF]

PLoS ONE, 2012
Deleterious mutations can have a strong influence on the outcome of evolution. The nature of this influence depends on how mutations combine together to affect fitness.
Joel R Peck, David Waxman, John J Welch
doaj   +1 more source

Multary epistasis

Bulletin of the Belgian Mathematical Society - Simon Stevin, 2001
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Iglesias, M. T., Vidal, C., Suys, D., Verschoren, A.   +3 more
openaire   +4 more sources

Two-stage genome-wide search for epistasis with implementation to Recombinant Inbred Lines (RIL) populations. [PDF]

PLoS ONE, 2014
OBJECTIVE AND METHODS:This paper proposes an inegrative two-stage genome-wide search for pairwise epistasis on expression quantitative trait loci (eQTL).
Pavel Goldstein, Abraham B Korol, Anat Reiner-Benaim   +2 more
doaj   +1 more source

Dynamic network-based epistasis analysis: Boolean examples

Frontiers in Plant Science, 2011
In this review we focus on how the hierarchical and single-path assumptions of epistasis analysis can bias the topologies of gene interactions infered. This has been acknowledged in several previous papers and reviews, but here we emphasize the critical ...
Eugenio eAzpeitia, Mariana eBenítez, Pablo ePadilla-Longoria, Carlos eEspinosa-Soto, Elena R. Alvarez-Buylla, Elena R. Alvarez-Buylla   +5 more
doaj   +1 more source

Parallel and serial computing tools for testing single-locus and epistatic SNP effects of quantitative traits in genome-wide association studies

BMC Bioinformatics, 2008
Background Genome-wide association studies (GWAS) using single nucleotide polymorphism (SNP) markers provide opportunities to detect epistatic SNPs associated with quantitative traits and to detect the exact mode of an epistasis effect.
Garbe John R, Dvorkin Daniel, Runesha H Birali, Ma Li, Da Yang   +4 more
doaj   +1 more source

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

Frontiers in Immunology, 2018
The existence of epistasis in humans was first predicted by Bateson in 1909. Epistasis describes the non-linear, synergistic interaction of two or more genetic loci, which can substantially modify disease severity or result in entirely new phenotypes ...
Rohan Ameratunga, Rohan Ameratunga, See-Tarn Woon, Vanessa L. Bryant, Vanessa L. Bryant, Richard Steele, Charlotte Slade, Charlotte Slade, Euphemia Yee Leung, Klaus Lehnert   +9 more
doaj   +1 more source

Mechanistic causes of sign epistasis and its applications

Frontiers in Genetics
Mapping genetic variations to phenotypic variations poses a significant challenge, as mutations often combine unexpectedly, diverging from assumed additive effects even in the same environment.
Jinqiu Zhang, Feiyu Chen, Feiyu Chen, Xianghua Li, Xianghua Li, Xianghua Li   +5 more
doaj   +1 more source

Towards a Better Basis Search through a Surrogate Model-Based Epistasis Minimization for Pseudo-Boolean Optimization

Mathematics, 2020
Epistasis, which indicates the difficulty of a problem, can be used to evaluate the basis of the space in which the problem lies. However, calculating epistasis may be challenging as it requires all solutions to be searched.
Yong-Hoon Kim, Yourim Yoon, Yong-Hyuk Kim   +2 more
doaj   +1 more source

A general model for multilocus epistatic interactions in case-control studies. [PDF]

PLoS ONE, 2010
BACKGROUND: Epistasis, i.e., the interaction of alleles at different loci, is thought to play a central role in the formation and progression of complex diseases.
Zhong Wang, Tian Liu, Zhenwu Lin, John Hegarty, Walter A Koltun, Rongling Wu   +5 more
doaj   +1 more source