Results 11 to 20 of about 140,139 (75)

Predicting non-neutral missense mutations and their biochemical consequences using genome-scale homology modeling of human protein complexes [PDF]

arXiv, 2013
Computational methods are needed to differentiate the small fraction of missense mutations that contribute to disease by disrupting protein function from neutral variants. We describe several complementary methods using large-scale homology modeling of human protein complexes to detect non-neutral mutations.
arxiv  

Codon Bias and Mutability in HIV Sequences [PDF]

arXiv, 1997
A survey of the patterns of synonymous codon preferences in the HIV env gene reveals a relation between the codon bias and the mutability requirements in different regions in the protein. At hypervariable regions in $gp120$, one finds a greater proportion of codons that tend to mutate non-synonymously, but to a target that is similar in hydrophobicity ...
arxiv  

Structural Investigations into Shwachman Bodian Diamond Syndrome SBDS using a Bioinformatics Approach [PDF]

InterJRI Science and Technology, Volume 1, pp 83-90, 2009, 2010
The functional correlation of missense mutations which cause disease remains a challenge to understanding the basis of genetic diseases. This is particularly true for proteins related to diseases for which there are no available three dimensional structures.
arxiv  

Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human Disease [PDF]

arXiv, 2017
Amino-acid substitutions are implicated in a wide range of human diseases, many of which are lethal. Distinguishing such mutations from polymorphisms without significant effect on human health is a necessary step in understanding the etiology of such diseases.
arxiv  

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation [PDF]

Brain. 2020 Dec 5;143(11):3242-3261
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal, and cervical involvement.
arxiv   +1 more source

ALPHAGMUT: A Rationale-Guided Alpha Shape Graph Neural Network to Evaluate Mutation Effects [PDF]

arXiv
In silico methods evaluating the mutation effects of missense mutations are providing an important approach for understanding mutations in personal genomes and identifying disease-relevant biomarkers. However, existing methods, including deep learning methods, heavily rely on sequence-aware information, and do not fully leverage the potential of ...
arxiv  

Population genetics of translational robustness [PDF]

arXiv, 2005
Recent work has shown that expression level is the main predictor of a gene’s evolutionary rate, and that more highly expressed genes evolve slower. A possible explanation for this observation is selection for proteins which fold properly despite mistranslation, in short selection for translational robustness.
arxiv  

Improving TSP Solutions Using GA with a New Hybrid Mutation Based on Knowledge and Randomness [PDF]

arXiv, 2018
Genetic algorithm (GA) is an efficient tool for solving optimization problems by evolving solutions, as it mimics the Darwinian theory of natural evolution. The mutation operator is one of the key success factors in GA, as it is considered the exploration operator of GA.
arxiv  

Fixation of mutators in asexual populations: the role of genetic drift and epistasis [PDF]

Evolution 67, 1143 (2013), 2012
We study the evolutionary dynamics of an asexual population of nonmutators and mutators on a class of epistatic fitness landscapes. We consider the situation in which all mutations are deleterious and mutators are produced from nonmutators continually at a constant rate.
arxiv  

Maximum likelihood (ML) estimators for scaled mutation parameters with a strand symmetric mutation model in equilibrium [PDF]

arXiv, 2019
With the multiallelic parent-independent mutation-drift model, the equilibrium proportions of alleles are known to be Dirichlet distributed. A special case is the biallelic model, in which the proportions are beta distributed. A sample taken from these models is then Dirichlet-multinomially or beta-binomially distributed, respectively.
arxiv