• Journal of Genetic Medicine
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• v.19 no.2
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• pp.76-84
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• 2022

Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients' symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

• Journal of Korean Library and Information Science Society
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• v.43 no.1
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• pp.123-141
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• 2012

The purpose of this study is to examine the possibility of using the WorldCat, an International Union Catalog operated by OCLC as a tool for analyzing the trend of knowledge distribution in libraries around the world. In this study, four subject keywords, that is, Korea, Korean, Japan, and Japanese, were used to search materials related to Korea and Japan, and four facets, including medium, genre, language, and user level, were used to categorize search results from the WorldCat. The result shows that information resources related to Korea held by libraries around the world are only a little more than a third of Japan-related information resources. Especially Korea-related information resources for juveniles are less in numbers and lack in diversity in languages, media and genres, when compared with Japan-related information resources. Also an examination of two bibliographic records demonstrates that viewpoints expressed in user contributed reviews might affect diffusion of knowledge on certain subjects in the Next Generation Library Catalog.

• Proceedings of the Korean Vacuum Society Conference
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• 2014.02a
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• pp.425.1-425.1
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• 2014

Thermal transport in nanomaterials is not only scientifically interesting but also technological important for various future electronic, bio, and energy device applications. Among the various computation approaches to investigate lattice thermal transport phenomena in nanoscale, the atomistic nonequilibrium Green's function approach based on first-principles density functional theory calculations appeared as a promising method given the continued miniaturization of devices and the difficulty of developing classical force constants for novel nanoscale interfaces. Among the nanometerials, carbon atomic chains, namely the cumulene (all-doulble bonds, ${\cdots}C=C=C=C{\cdots}$) and polyyne (alternation of single and triple bonds, ${\cdots}C{\equiv}C-C{\equiv}C{\cdots}$) can be considered as the extream cases of interconnction materials for nanodevices. After the discovery and realization of carbon atomic chains, their electronic transport properties have been widely studied. For the thermal transport properties, however, there have been few literatures for this simple linear chain system. In this work, we first report on the development of a non-equilibrium Green's function theory-based computational tool for atomistic thermal transport calculations of nanojunctions. Using the developed tool, we investigated phonon dispersion and transmission properties of polyethylene (${\cdots}CH2-CH2-CH2-CH2{\cdots}$) and polyene (${\cdots}CH-CH-CH-CH{\cdots}$) structures as well as the cumulene and polyyne. The resulting phonon dispersion from polyethylene and polyene showed agreement with previous results. Compared to the cumulene, the gap was found near the ${\Gamma}$ point of the phonon dispersion of polyyne as the prediction of Peierls distortion, and this feature was reflected in the phonon transmission of polyyne. We also investigated the range of interatomic force interactions with increase in the size of the simulation system to check the convergence criteria. Compared to polyethylene and polyene, polyyne and cumulene showed spatially long-ranged force interactions. This is reflected on the differences in phonon transport caused by the delicate differences in electronic structure.

• Journal of Microbiology and Biotechnology
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• v.28 no.6
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• pp.931-937
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• 2018

Glycosyltransferases (GTs) from microbes are an emerging and rich source for efficient glycol-transformation of natural/unnatural compounds. Here, we probed the catalytic capability and substrate promiscuity of BmmGT1 from marine-derived Bacillus methylotrophicus B-9987. The regioselectivity of BmmGT1 on macrolactin A (1) was explored by optimization of the reaction conditions, in which a series of O-glycosylated macrolactins (1a-1e) were generated, including two new di/tri-O-glucosyl analogs (1b and 1e). Furthermore, BmmGT1 was able to catalyze the glycosylation of the thiol (S-) or amine (N-) sites of phenolic compounds (2 and 3), leading to the generation of N- (2a) or S-glycosides (3a and 3b). The present study demonstrates that BmmGT1 could serve as a potential enzyme tool for O-, N-, or S-glycosyl structural diversification of compounds for drug discovery.

• Korean Journal of Clinical Pharmacy
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• v.21 no.4
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• pp.339-346
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• 2011

Over the past few decades, drug regulatory agencies in advanced countries have been emphasizing pharmacometrics as a tool for an effective and efficient drug evaluation. Despite this international movement, the value of pharmacometrics is still poorly recognized by the Korean drug evaluation system. This study aimed to analyze the current state of utilization of pharmacometrics by foreign drug regulatory agencies and develop a road map to guide the implementation pharmacometrics into the Korean drug evaluation system. MEDLINE and foreign drug regulatory agency database were extensively searched to obtain scientific research articles, guidance, regulations and pharmacometric review reports on foreign pharmacometric drug evaluation system. A systematic roadmap comprised of 3 stages to implement pharmacometrics in Korean drug evaluation system was formulated after analyzing the collected data in tune with the current evaluation system. Pharmacometrics is an urgently required tool to achieve an efficient drug evaluation and review in Korea. The road map developed by this study is expected to aid in setting up a policy to implement and utilize pharmacometrics in Korea.

• Journal of the Korea Safety Management & Science
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• v.18 no.4
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• pp.81-90
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• 2016

Research and development activities have been actively conducted at universities, research institutions and research laboratories which belong to corporations. Because of blooming research and development activities in various fields, safety accidents in the laboratories happen consistently. The government office established Act on the establishment of safe laboratory environment to decrease safety accident rates and make environment of laboratories better, and it is effective slowly. However, in the case of laboratory safety management of the laboratory where various research and development activities are carried out. So it is difficult to closely monitor them. Even though safety inspections and periodic inspections is regularly conducted, these are focused on facilities and environment. According to a study of Dea-deok science town safety council, accidents in laboratories of 73% have arisen out of careless actions. Therefore, it is important for researchers to know to potential harmful factors in research. there is necessary to make a system to prevent laboratory accidents. The purpose of this study is that the researchers discovered potential hazard factors in laboratories. For that, foreign laboratory safety management systems has applied to domestic laboratories. Four laboratories in targeted institution has been selected to apply the appropriate personal protection equipments, job safety assessment and standard operating procedures. And I found the limitations of the process according to the excavations harmful factors in the research process. To overcome these limitations, Suggest a laboratory safety management system. This study discovered current laboratory safety system limitations and provides alternatives so that effective safety management can be achieved.

• International Journal of Contents
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• v.18 no.2
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• pp.1-17
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• 2022

As of September 2021, COVID-19 is still seriously impacting people globally. To better control the epidemic, the Chinese government adopted a nationwide quarantine policy at the early stage of the discovery of COVID-19, which has significantly changed people's production and life. China's Douyin app (International version: TikTok) is an extremely influential entertainment and social tool. During COVID-19, a large number of short videos about COVID-19 appeared. Publishers included government agencies, professionals, and self-media. The content released has made Douyin a tool for people to receive COVID-19 information in addition to entertainment and social functions. This is a quantitative study. By exploring the impact of the Douyin app on Chinese college students during COVID-19, this study provides suggestions from the level of social media such as TikTok to enable Korea's epidemic prevention to be more effective. This study established variable questions such as Douyin's information perceived value, information usage channels, information awareness, anti-epidemic policy attitude, trust of public institution and preventive behavioral intention, and conducted a questionnaire survey. Using SPSS to analyze the obtained data, this study found that: 1. The short video information usage channels about COVID-19 in Douyin have a positive impact on the audience's information awareness; 2. The information perceived value in Douyin has a positive impact on the audience's information awareness; 3. Information awareness and trust of public institution in Douyin have a positive impact on the audience's anti-epidemic policy attitude; 4. Information awareness and trust of public institutions in Douyin have a positive impact on the audience's preventive behavioral intention; 5. The audience's anti-epidemic policy attitude has a positive effect on preventive behavioral intention.

• Journal of Computing Science and Engineering
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• v.2 no.1
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• pp.44-73
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• 2008

There is general agreement that the problem of data semantics has to be addressed for XML data to become machine-processable. This problem can be tackled by defining a semantic mapping between an XML schema and an ontology. Unfortunately, creating such mappings is a tedious, time-consuming, and error-prone task. To alleviate this problem, we present a solution that heuristically discovers semantic mappings between XML schemas and ontologies. The solution takes as input an initial set of simple correspondences between element attributes in an XML schema and class attributes in an ontology, and then generates a set of mapping formulas. Once such a mapping is created, it is important and necessary to maintain the consistency of the mapping when the associated XML schema and ontology evolve. In this paper, we first offer a mapping formalism to represent semantic mappings. Second, we present our heuristic mapping discovery algorithm. Third, we show through an empirical study that considerable effort can be saved when discovering complex mappings by using our prototype tool. Finally, we propose a mapping maintenance plan dealing with schema evolution. Our study provides a set of effective solutions for building sustainable semantic integration systems for XML data.

• The Journal of Asian Finance, Economics and Business
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• v.7 no.6
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• pp.457-464
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• 2020

This study aims to recognize customers' real sentiment and then discover the data-driven insights for strategic decision-making in the financial sector of Saudi Arabia. The data was collected from the social media (Facebook and Twitter) from start till October 2018 in financial companies (NCB, Al Rajhi, and Bupa) selected in the Kingdom of Saudi Arabia according to criteria. Then, it was analyzed using a sentiment analysis, one of data mining techniques. All three companies have similar likes and followers as they serve customers as B2B and B2C companies. In addition, for Al Rajhi no negative sentiment was detected in English posts, while it can be seen that Internet penetration of both banks are higher than BUPA, rarely mentioned in few hours. This study helps to predict the overall popularity as well as the perception or real mood of people by identifying the positive and negative feelings or emotions behind customers' social media posts or messages. This research presents meaningful insights in data-driven approaches using a specific data mining technique as a tool for corporate decision-making and forecasting. Understanding what the key issues are from customers' perspective, it becomes possible to develop a better data-based global strategies to create a sustainable competitive advantage.

• IMMUNE NETWORK
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• v.15 no.4
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• pp.177-185
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• 2015

Although rheumatoid arthritis (RA) is the most common chronic inflammatory autoimmune disease, diagnosis of RA is currently based on clinical manifestations, and there is no simple, practical assessment tool in the clinical field to assess disease activity and severity. Recently, there has been increasing interest in the discovery of new diagnostic RA biomarkers that can assist in evaluating disease activity, severity, and treatment response. Proteomics, the large-scale study of the proteome, has emerged as a powerful technique for protein identification and characterization. For the past 10 years, proteomic techniques have been applied to different biological samples (synovial tissue/fluid, blood, and urine) from RA patients and experimental animal models. In this review, we summarize the current state of the application of proteomics in RA and its importance in identifying biomarkers and treatment targets.