Results 51 to 60 of about 38,666 (258)
The Case | Epistasis and urolithiasis
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
openaire +4 more sources
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
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
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
Idiosyncratic epistasis creates universals in mutational effects and evolutionary trajectories
Patterns of epistasis and shapes of fitness landscapes are of wide interest because of their bearings on a number of evolutionary theories. The common phenomena of slowing fitness increases during adaptations and diminishing returns from beneficial ...
Daniel M. Lyons+3 more
semanticscholar +1 more source
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]
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
Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import
About a thousand genes in the human genome encode for membrane transporters. Among these, several solute carrier proteins (SLCs), representing the largest group of transporters, are still orphan and lack functional characterization.
E. Girardi+17 more
semanticscholar +1 more source
Epigenetics, epistasis and epidemics [PDF]
Department of Microbiology, Ramon y Cajal University Hospital, Ramon y Cajal Institute for Health Research (IRYCIS), Madrid, Spain *Correspondence address. Department of Microbiology, Ramon y Cajal University Hospital, Carretera de Colmenar km 9,100. 28034 Madrid, Spain.
openaire +3 more sources
Mechanistic causes of sign epistasis and its applications
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+5 more
doaj +1 more source