Search results for "Genetic algorithm"
showing 10 items of 834 documents
Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia.
2020
Familial defective apolipoprotein (apo) B (FDB) and familial hypercholesterolaemia (FH) are the two common genetic conditions that cause hypercholesterolaemia. R3531C mutation of the APOB gene is a rare cause of FDB. Individuals with both FDB and FH are rare. A 51-year-old man with hypercholesterolaemia (11.4 mmol/L) and his family were studied. Low-density lipoprotein (LDL) receptor (LDLR) and APOB genes were analysed by direct sequencing. LDL of four subjects were studied in a fibroblast LDL receptor-binding displacement assay. We found a mutation of the LDLR gene (p.Y398X) in the proband and in four other family members: the p.R3531C APOB gene mutation was also found in the proband, his …
Genotype–phenotype correlation in a new Fabry-disease-causing mutation
2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…
Decentralization and heterogeneity in complex adaptative systems
2015
Purpose – Following a bacterial-based modeling approach, the authors want to model and analyze the impact of both decentralization and heterogeneity on group behavior and collective learning. The paper aims to discuss these issues. Design/methodology/approach – Inspired by bacterial conjugation, the authors have defined an artificial society in which agents’ strategies adapt to changes in resources location, allowing migration, and survival in a dynamic sugarscape-like scenario. To study the impact of these variables the authors have simulated a scenario in which resources are limited and localized. The authors also have defined three constraints in genetic information processing (inhibiti…
ERP lifecycle: When to retire your ERP system?
2011
Published version of a chapter in the book: Enterprise information systems, vol 219, part 3, 168-177. Also available from the publisher at: http://dx.doi.org/10.1007/978-3-642-24358-5_17 A lot of research has been undertaken focusing on ERP systems lifecycles, but very little paid attention to retirement. ERP retirement means the replacement of an ERP with another. The aim of this research paper is to investigate why and when should organizations retire their ERP systems. A convenience case study of an SME has been selected from Egypt. The case study under investigation has retired their local ERP system and replaced it with SAP ERP. Results of our analysis indicated that reasons of retirem…
ERP Lifecycle
2000
A lot of research has been undertaken focusing on ERP systems lifecycles, but very little paid attention to retirement. ERP retirement means the replacement of an ERP with another. The aim of this research paper is to investigate why and when should organizations retire their ERP systems. A convenience case study of a SME has been selected from Egypt. The case study under investigation has retired their local ERP system and replaced it with SAP ERP. Results of the analysis indicate that reasons of retirement were: wrong selection, users were not involved in the selection process, and lack of an official implementation methodology. This is considered a new finding since main stream literatur…
Economic lot scheduling on multiple production lines with resource constraints
2003
Abstract This paper deals with the multiple production line economic lot scheduling problem, where some items cannot be produced concurrently since they compete for some discrete resources. In particular, cyclic schedules are sought for a problem where identical production lines are present, lost sales are allowed, and minimization of the long-range production, setup, inventory, and shortage penalty costs are required. A heuristic procedure for this problem is introduced, a numerical example is worked out and some computational experiments are presented.
Quantized Dissensus in switching networks with nodes death and duplication* *Research supported by MURST-PRIN “Robust Techniques for uncertain system…
2009
Abstract In this paper we discuss agents exchanging quantized flows to diverge one from the others according to a dissensus protocol. A Quantized Gossip algorithm is considered. Evolutions of the states during switching intervals and at switching instants and their property are described and analyzed. The modeling of switching systems describing networks where death and duplication processes occur is described. Some properties of the topology reached by the network when different rules of duplication and inheritance are implemented.
Widespread selection for high and low secondary structure in coding sequences across all domains of life
2019
AbstractCodon composition, GC-content and local RNA secondary structures can have a profound effect on gene expression and mutations affecting these parameters, even though they do not alter the protein sequence, are not neutral in terms of selection. Although evidence exists that in some cases selection favors more stable RNA secondary structures, we currently lack a concrete idea of how many genes are affected within a species, and if this is a universal phenomenon in nature.We searched for signs of structural selection in a global manner, analyzing a set of one million coding sequences from 73 species representing all domains of life, as well as viruses, by means of our newly developed s…
Comparison of classification methods that combine clinical data and high-dimensional mass spectrometry data
2013
Background The identification of new diagnostic or prognostic biomarkers is one of the main aims of clinical cancer research. Technologies like mass spectrometry are commonly being used in proteomic research. Mass spectrometry signals show the proteomic profiles of the individuals under study at a given time. These profiles correspond to the recording of a large number of proteins, much larger than the number of individuals. These variables come in addition to or to complete classical clinical variables. The objective of this study is to evaluate and compare the predictive ability of new and existing models combining mass spectrometry data and classical clinical variables. This study was co…
High frequency of BRAF V600E mutation in Iranian population ameloblastomas
2020
Background Ameloblastoma is a common locally invasive but slow-growing neoplasm of the jaws with an odontogenic origin. Association between BRAF V600E mutation and clinicopathologic features and behavior of ameloblastoma remains controversial. This study aimed to evaluate BRAF V600E gene mutation and expression of its related proteins with clinicopathologic parameters in conventional ameloblastoma. Material and Methods 50 Formalin-fixed paraffin-embedded blocks were included in this study. Immunohistochemistry was done using rabbit monoclonal BRAF V600E mutation-specific antibody VE1. Quantitative real-time polymerase chain reaction assay was used for evaluating of BRAF V600E mutation. Resu…