Results 41 to 50 of about 55,446 (204)
The Case | Epistasis and urolithiasis
Kidney International, 2017 A 26-year-old woman was referred for recurrent urolithiasis. The first manifestation occurred 3 years before, followed by recurrent acute episodes. She underwent one ureteral stent placement, one shock wave lithotripsy, and at last a flexible ureteroscopy that allowed to retrieve all the remaining stones.
Michel Daudon +10 more
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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 +9 more
doaj +1 more source
Epistasis and Adaptation on Fitness Landscapes [PDF]
arXiv, 2022 Epistasis occurs when the effect of a mutation depends on its carrier's genetic background. Despite increasing evidence that epistasis for fitness is common, its role during evolution is contentious. Fitness landscapes, mappings of genotype or phenotype to fitness, capture the full extent and complexity of epistasis.
arxiv
, 2021 AbstractWe performed a genome-wide epistasis search across 502 phenotypes in case control matched cohorts from the UK Biobank. We identified 152,519 genome wide significant interactions in 68 distinct phenotypes, and 3,398 interactions in 19 phenotypes were successfully replicated in independent cohorts from the Finngen consortium.
Deepak Rajpal +5 more
openaire +1 more source
Bulletin of the Belgian Mathematical Society - Simon Stevin, 2001 Abstract: In this note, we introduce and study the notion of normalized epistasis of a fitness function over not necessary binary alphabets, as an indicator of its CA-hardness, Fitness functions with minimal and maximal normalized epistasis are explicitly described.
Iglesias, M. T. +3 more
openaire +3 more sources
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 +5 more
doaj +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 +4 more
core +2 more sources
Physical epistatic landscape of antibody binding affinity [PDF]
Cell Systems 8 86-93 (2019), 2017 Affinity maturation produces antibodies that bind antigens with high specificity by accumulating mutations in the antibody sequence. Mapping out the antibody-antigen affinity landscape can give us insight into the accessible paths during this rapid evolutionary process.
arxiv +1 more source
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 +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 +2 more
doaj +1 more source