Articles with "epistasis" as a keyword



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Using C-JAMP to Investigate Epistasis and Pleiotropy.

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Published in 2021 at "Methods in molecular biology"

DOI: 10.1007/978-1-0716-0947-7_14

Abstract: Unraveling the complex biological mechanisms underlying human health and disease is a great challenge. With genomic data, many aspects can be investigated in great detail, such as interactions between different genetic variants as well as… read more here.

Keywords: jamp investigate; epistasis pleiotropy; investigate epistasis; epistasis ... See more keywords
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Protocol for Epistasis Detection with Machine Learning Using GenEpi Package.

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Published in 2021 at "Methods in molecular biology"

DOI: 10.1007/978-1-0716-0947-7_18

Abstract: To develop medical treatments and prevention, the association between disease and genetic variants needs to be identified. The main goal of genome-wide association study (GWAS) is to discover the underlying reason for vulnerability to disease… read more here.

Keywords: package; machine learning; epistasis; gene ... See more keywords
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Epistasis Analysis: Classification Through Machine Learning Methods.

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Published in 2021 at "Methods in molecular biology"

DOI: 10.1007/978-1-0716-0947-7_21

Abstract: Complex disease is different from Mendelian disorders. Its development usually involves the interaction of multiple genes or the interaction between genes and the environment (i.e. epistasis). Although the high-throughput sequencing technologies for complex diseases have produced… read more here.

Keywords: machine learning; epistasis analysis; epistasis; learning methods ... See more keywords
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Moderate Amounts of Epistasis are Not Evolutionarily Stable in Small Populations

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Published in 2020 at "Journal of Molecular Evolution"

DOI: 10.1007/s00239-020-09942-4

Abstract: High mutation rates select for the evolution of mutational robustness where populations inhabit flat fitness peaks with little epistasis, protecting them from lethal mutagenesis. Recent evidence suggests that a different effect protects small populations from… read more here.

Keywords: moderate amounts; epistasis evolutionarily; small populations; amounts epistasis ... See more keywords
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Capturing pair-wise epistatic effects associated with three agronomic traits in barley

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Published in 2018 at "Genetica"

DOI: 10.1007/s10709-018-0008-0

Abstract: Genetic association mapping has been widely applied to determine genetic markers favorably associated with a trait of interest and provide information for marker-assisted selection. Many association mapping studies commonly focus on main effects due to… read more here.

Keywords: associated three; traits barley; epistasis; effects associated ... See more keywords

Epistasis between ADIPOQ rs1501299 and PON1 rs662 polymorphisms is potentially associated with the development of knee osteoarthritis

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Published in 2019 at "Molecular Biology Reports"

DOI: 10.1007/s11033-019-04654-5

Abstract: Overweight produces oxidative stress (OS) on the articular cartilage, with the subsequent risk of developing knee osteoarthritis (OA). Associations between genetic polymorphisms related to OS and OA have been reported, but it is currently unknown… read more here.

Keywords: rs1501299; pon1; epistasis; knee ... See more keywords
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Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

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Published in 2018 at "Neurobiology of Aging"

DOI: 10.1016/j.neurobiolaging.2018.08.001

Abstract: Systematic epistasis analyses in multifactorial disorders are an important step to better characterize complex genetic risk structures. We conducted a hypothesis-free sex-stratified genome-wide screening for epistasis contributing to Alzheimer's disease (AD) susceptibility. We identified a… read more here.

Keywords: brain tissue; alzheimer disease; epistasis; tln2 ... See more keywords
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Experimental and In Silico Analysis of TEM β-Lactamase Adaptive Evolution

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Published in 2022 at "ACS Infectious Diseases"

DOI: 10.1021/acsinfecdis.2c00216

Abstract: Multiple mutations often have non-additive (epistatic) phenotypic effects. Epistasis is of fundamental biological relevance but is not well understood mechanistically. Adaptive evolution, i.e., the evolution of new biochemical activities, is rich in epistatic interactions. To… read more here.

Keywords: tem lactamase; gof mutations; evolution; epistasis ... See more keywords
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Sign epistasis caused by hierarchy within signalling cascades

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Published in 2018 at "Nature Communications"

DOI: 10.1038/s41467-018-03644-8

Abstract: Sign epistasis is a central evolutionary constraint, but its causal factors remain difficult to predict. Here we use the notion of parameterised optima to explain epistasis within a signalling cascade, and test these predictions in… read more here.

Keywords: sign epistasis; within signalling; hierarchy; epistasis ... See more keywords
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OncoSimulR: genetic simulation with arbitrary epistasis and mutator genes in asexual populations

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Published in 2017 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btx077

Abstract: Summary: OncoSimulR implements forward‐time genetic simulations of biallelic loci in asexual populations with special focus on cancer progression. Fitness can be defined as an arbitrary function of genetic interactions between multiple genes or modules of… read more here.

Keywords: genetic simulation; mutator genes; asexual populations; epistasis ... See more keywords
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SMMB: a stochastic Markov blanket framework strategy for epistasis detection in GWAS

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Published in 2018 at "Bioinformatics"

DOI: 10.1093/bioinformatics/bty154

Abstract: Motivation Large scale genome-wide association studies (GWAS) are tools of choice for discovering associations between genotypes and phenotypes. To date, many studies rely on univariate statistical tests for association between the phenotype and each assayed… read more here.

Keywords: strategy; markov blanket; epistasis; detection ... See more keywords