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Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study
Anikó Bozsik,János Papp,Vince Kornél Grolmusz,Attila Patócs,Edit Oláh,Henriett Butz 대한암학회 2022 Cancer Research and Treatment Vol.54 No.4
Purpose While BRCA1/2 genes are commonly investigated, variants of unknown significance (VUS) and variants with potential splice effect are still being detected and they represent a substantial challenge in genetic counseling and therapy. Materials and Methods Out of genetically tested 3,568 hereditary breast and ovarian cancer probands five, functionally not investigated variants with potential splice-modifying effect were subjected to functional characterization. Transcript-level analysis on peripheral blood-derived RNA of the carriers was performed to test aberrant splicing. The completeness of the aberrant splicing event was also studied, existence and extent of nonsense-mediated decay was even addressed. Clinical and phenotype data, pedigree and co-segregation analyses were also done. Locus-specific loss of heterozygosity (LOH) in tumor tissues was additionally tested. Results In case of the BRCA1:c.4484+4dupA and the BRCA1:c.5407-10G>A variants functional results allowed us to reclassify them from VUS into likely pathogenic category. BRCA1:c.4358-31A>C, by producing incomplete aberrant splicing, was highlighted as strong VUS, but in lack of other supporting evidence, re-categorization was not possible. The likely pathogenic assertion of previously not reported BRCA2:c.8487G>T was reinforced based on its spliceogenic property and tumor LOH, while BRCA2:c.793G>A failed to present aberrant splicing in spite of suggestive predictions, which altered its original VUS evaluation into likely benign class. Conclusion We presented molecular and clinical evidence for reclassification of four out of five BRCA1/2 variants. Both up- and down-classification harbour important clinical significance. Patients carrying re-classified pathogenic variants in the future will not be dropped out from medical surveillance, preventive measures, treatment and predictive family screening in relatives at risk.
A Decision Making Method for Reconfiguration of Adaptive Info-communications Systems
Anik Yuesti,Saule Gabitovna Serikbayeva,Vasilya Minsalichovna Gafurova,Tatiana Gennadevna Mansurova 대한산업공학회 2021 Industrial Engineeering & Management Systems Vol.20 No.4
The adaptation both information and communication systems to variable external factors is implemented through the modernization activities. In this paper the problem of decision-making for adaptive system reconfiguration under uncertainty is considered. The decision-making method is used to detect a need for reconfiguration, built a set of reconfigurations plans and choose the preferable one based on data collection from diagnostic sensor network. Integral decision-making criterion combines the criterion for selecting a suitable reconfiguration moment and alternative. The main idea of the proposed method is to combine the multifactor active diagnostic model, weighted utility and preference theory, decision-making technique under uncertainty with comparison methods for fuzzy trees with incomplete requirement. The general result is achieved by reducing the uncertainty of diagnostic data. It is expected that the proposed decision-making method will help to improve the systems’ suitability in the case of uncertainty.
Application of Forest Optimization Algorithm for the Resource Constraint Project Scheduling
Anik Yuesti,Rizqy Amalia Putri,Hussein Tuama Hazim,Oleg N. Polukhin,Hendrixon,Israr AHMAD,Tzu-Chia Chen,Vo Hoang Ca,Huynh Tan Hoi,Surendar Aravindhan 대한산업공학회 2022 Industrial Engineeering & Management Systems Vol.21 No.2
Project scheduling is one of the most complex yet important issues in project-based planning. Scheduling is a topic that has entered the project from the production space and has been considered by many researchers in recent years. This problem has always faced many challenges due to its complex limitations in the real world. One of these issues is resource scheduling, known in optimization as the RCPSP problem. The study's main aim is to investigate the applica-tion of a forest optimization algorithm for resource constraint project scheduling. In this research, the RCPSP problem is optimized. A mathematical model is then proposed and then optimized using meteorological algorithms for forest optimization and refrigeration simulation. A hybrid meta-algorithm has also been developed for this document. Examination and comparisons of this algorithm show that the proposed method has the necessary efficiency both in terms of speed and quality of solutions.
BUAV: A Blockchain Based Secure UAV-Assisted Data Acquisition Scheme in Internet of Thing
Anik Islam,신수영 한국통신학회 2019 Journal of communications and networks Vol.21 No.5
Internet of things (IoT), mobile edge computing (MEC),and unmanned aerial vehicle (UAV) have attracted significant attentionin both industry and academic research. By consolidatingthese technologies, IoT can be facilitated with improved connectivity,better data transmission, energy saving, and other advantages. However, the communication between these entities is subject topotential cyber threats. In addition, the integrity of the data mustbe maintained after storing into local storage. Blockchain is a datastructure that supports features like pseudonymity, data integrityetc. This paper represents a blockchain based data acquisition processin which information is gathered from IoTs using UAV as arelay and is securely kept in blockchain at MEC server. In the proposedscheme, data are encrypted prior to transfer to MEC serverwith the assistance of a UAV. Upon receiving the data, MEC servervalidates the data and the identity of the sender. Successful validationis followed by stocking of the data into blockchain, subsequentto obtaining consent from the validators. Security analysisis conducted in order to show the feasibility of the proposed securescheme. Finally, the performance of the proposed scheme is analyzedvia simulation and implementation.
Optimizing the Issue of Blood Supply Chain Network Design with a Reliability Approach
Anik Yuesti,Paitoon Chetthamrongchai,Alim Al Ayub Ahmed,Vera Anitra,Surendar Aravindhan,Ravil Akhmadeev,Dedy Achmad Kurniady,Clara Neltje Meini Rotinsulu,M. Kavitha 대한산업공학회 2022 Industrial Engineeering & Management Systems Vol.21 No.2
Supply chain network design of a product is one of the primary and strategic measures in supply chain management that plays a vital role in supply chain performance. Since blood is a special commodity and has no substitute, supply chain management and optimization have a special place among researchers. In this research, for the first time, a two-objective nonlinear mixed integer model is presented to help make strategic and operational decisions in the blood supply chain. The first objective function is related to cost minimization and the second objective function is related to supply chain reliability maximization, which is considered as a series-parallel system. To check the validity of the model, a numerical example is solved using GAMS software, then using MOPSO meta-heuristic algorithm, the model is solved in larger dimensions and while comparing the performance criteria of multi-objective algorithms, the results are reviewed.