Results 31 to 40 of about 60,491 (200)

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

Epistasis not needed to explain low dN/dS

, 2012
An important question in molecular evolution is whether an amino acid that occurs at a given position makes an independent contribution to fitness, or whether its effect depends on the state of other loci in the organism's genome, a phenomenon known as ...
AL Halpern, AS Kondrashov, AU Tamuri, David M. McCandlish, DM Fowler, Etienne Rajon, J da Silva, Joshua B. Plotkin, MA DePristo, MLM Salverda, MS Breen, N Rodrigue, Premal Shah, S Kryazhimskiy, SC Choi, TF Hansen, WH Li, Yang Ding, Z Yang, Z Yang   +19 more
core   +1 more source

Statistical Modeling of Epistasis and Linkage Decay using Logic Regression [PDF]

, 2008
Logic regression has been recognized as a tool that can identify and model non-additive genetic interactions using Boolean logic groups. Logic regression, TASSEL-GLM and SAS-GLM were compared for analytical precision using a previously characterized ...
Jean-Luc Jannink, John A. Henning, Peter Szucs, Thomas B. Parker, Walt F. Mahaffee   +4 more
core   +2 more sources

Detecting epistasis via Markov bases [PDF]

, 2010
Rapid research progress in genotyping techniques have allowed large genome-wide association studies. Existing methods often focus on determining associations between single loci and a specific phenotype.
Malaspinas, Anna-Sapfo, Uhler, Caroline
core   +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

Epistasis: obstacle or advantage for mapping complex traits? [PDF]

PLoS ONE, 2010
Identification of genetic loci in complex traits has focused largely on one-dimensional genome scans to search for associations between single markers and the phenotype.
Koen J F Verhoeven, George Casella, Lauren M McIntyre   +2 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

The consistency of beneficial fitness effects of mutations across diverse genetic backgrounds. [PDF]

PLoS ONE, 2012
Parallel and convergent evolution have been remarkably common observations in molecular adaptation but primarily in the context of the same genotype adapting to the same conditions.
Victoria M Pearson, Craig R Miller, Darin R Rokyta   +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

The Circadian Transcription Factor CLOCK Modulates Oxidative Stress Resistance via the ACHL–Relish Axis in Drosophila

Advanced Science, EarlyView.
This study identifies the circadian transcription factor CLOCK (CLK) as a key regulator of oxidative stress resistance in fruit flies. CLK controls immune responses by driving rhythmic transcription of an RNA‐binding protein‐Achilles (ACHL) in the fly brain, which post‐transcriptionally represses the NF‐κB homolog Relish, limiting immune activation and
Xu Liu, Jiajia Fang, Dawei Cheng, Wei Luan, Yan Lv, Wen Hu, Lei Pan, Yong Zhang   +7 more
wiley   +1 more source