Search results for "MUTATION"
showing 10 items of 2830 documents
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
Pan-cancer analysis of whole genomes
2020
Publisher's version (útgefin grein)
Increase in transmitted resistance to non-nucleoside reverse transcriptase inhibitors among newly diagnosed HIV-1 infections in Europe
2014
Background: One out of ten newly diagnosed patients in Europe was infected with a virus carrying a drug resistant mutation. We analysed the patterns over time for transmitted drug resistance mutations (TDRM) using data from the European Spread program.Methods: Clinical, epidemiological and virological data from 4317 patients newly diagnosed with HIV-1 infection between 2002 and 2007 were analysed. Patients were enrolled using a pre-defined sampling strategy.Results: The overall prevalence of TDRM in this period was 8.9% (95% CI: 8.1-9.8). Interestingly, significant changes over time in TDRM caused by the different drug classes were found. Whereas nucleoside resistance mutations remained con…
Multi-objective memetic optimization for the bi-objective obnoxious p -median problem
2018
Abstract Location problems have been studied extensively in the optimization literature, the p-median being probably one of the most tackled models. The obnoxious p-median is an interesting variant that appears in the context of hazardous location. The aim of this paper is to formally introduce a bi-objective optimization model for this problem, in which a solution consists of a set of p locations, and two conflicting objectives arise. On the one hand, the sum of the minimum distance between each client and their nearest open facility and, on the other hand, the dispersion among facilities. Both objective values should be kept as large as possible for a convenient location of dangerous faci…
An open-source GA framework for optimizing the seismic upgrading design of RC frames through BRBs
2022
Abstract Optimizing seismic upgrading interventions in reinforced concrete (RC) structures is a difficult task, due to the inner non-linearity of the analyses usually performed. Additionally, it is well known that the displacement demand to the structure depends from the mass and stiffness of the system, and consequently its definition cannot be made a-priori. This paper presents the application of a soft-computing method -i.e. Genetic Algorithm (GA)- for the shaping optimization of code-compliant seismic upgrading interventions on plane RC frames through Buckling-Restrained Braces (BRB). The metaheuristic procedure allows to minimize the cost while ensuring the required safety level, witho…
The distributed assembly permutation flowshop scheduling problem
2013
Nowadays, improving the management of complex supply chains is a key to become competitive in the twenty-first century global market. Supply chains are composed of multi-plant facilities that must be coordinated and synchronised to cut waste and lead times. This paper proposes a Distributed Assembly Permutation Flowshop Scheduling Problem (DAPFSP) with two stages to model and study complex supply chains. This problem is a generalisation of the Distributed Permutation Flowshop Scheduling Problem (DPFSP). The first stage of the DAPFSP is composed of f identical production factories. Each one is a flowshop that produces jobs to be assembled into final products in a second assembly stage. The o…
Developing Domain-Knowledge Evolutionary Algorithms for Network-on-Chip Application Mapping
2013
This paper addresses the Network-on-Chip (NoC) application mapping problem. This is an NP-hard problem that deals with the optimal topological placement of Intellectual Property cores onto the NoC tiles. Network-on-Chip application mapping Evolutionary Algorithms are developed, evaluated and optimized for minimizing the NoC communication energy. Two crossover and one mutation operators are proposed. It is analyzed how each optimization algorithm performs with every genetic operator, in terms of solution quality and convergence speed. Our proposed operators are compared with state-of-the-art genetic operators for permutation problems. Finally, the problem is approached in a multi-objective w…
Stochastic anticipative calculus on the path space over a compact Riemannian manifold
1998
Abstract In this paper, we shall first give another expression for Cruzeiro-Malliavin structure equation, by means of the Skorohod integral. The torsion tensor with respect to the Markovian connection used in [CF] is computed. This is the key step to establish a Stroock-like formula of commutation on the derivative of the Skorohod integral, which enables us to prove an Ito formula. As an application, we shall give a maximal inequality for Skorohod integrals following [AN2].
Combinatorial Gray codes for classes of pattern avoiding permutations
2007
The past decade has seen a flurry of research into pattern avoiding permutations but little of it is concerned with their exhaustive generation. Many applications call for exhaustive generation of permutations subject to various constraints or imposing a particular generating order. In this paper we present generating algorithms and combinatorial Gray codes for several families of pattern avoiding permutations. Among the families under consideration are those counted by Catalan, Schr\"oder, Pell, even index Fibonacci numbers and the central binomial coefficients. Consequently, this provides Gray codes for $\s_n(\tau)$ for all $\tau\in \s_3$ and the obtained Gray codes have distances 4 and 5.
Combinatorics of generalized Bethe equations
2012
A generalization of the Bethe ansatz equations is studied, where a scalar two-particle S-matrix has several zeroes and poles in the complex plane, as opposed to the ordinary single pole/zero case. For the repulsive case (no complex roots), the main result is the enumeration of all distinct solutions to the Bethe equations in terms of the Fuss-Catalan numbers. Two new combinatorial interpretations of the Fuss-Catalan and related numbers are obtained. On the one hand, they count regular orbits of the permutation group in certain factor modules over \({\mathbb{Z}^M}\), and on the other hand, they count integer points in certain M-dimensional polytopes.