• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.1
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• pp.1-6
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• 2021

Next-generation sequencing (NGS) technologies have changed the process of genetic diagnosis from a gene-by-gene approach to syndrome-based diagnostic gene panel sequencing (DPS), diagnostic exome sequencing (DES), and diagnostic genome sequencing (DGS). A priori information on the causative genes that might underlie a genetic condition is a prerequisite for genetic diagnosis before conducting clinical NGS tests. Theoretically, DPS, DES, and DGS do not require any information on specific candidate genes. Therefore, clinical NGS tests sometimes detect disease-related pathogenic variants in genes underlying different conditions from the initial diagnosis. These clinical NGS tests are expensive, but they can be a cost-effective approach for the rapid diagnosis of rare disorders with genetic heterogeneity, such as the glycogen storage disease, familial intrahepatic cholestasis, lysosomal storage disease, and primary immunodeficiency. In addition, DES or DGS may find novel genes that that were previously not linked to human diseases.

• Journal of the Korean Society for Precision Engineering
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• v.16 no.1 s.94
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• pp.49-60
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• 1999

This paper addresses a welding task sequencing for robot arc welding process planning. Although welding task sequencing is an essential step in the welding process planning, it has not been considered through a systematic approach, but it depends rather on empirical knowledge. Thus, an effective task sequencing for robot arc welding is required. Welding perations can be classified by the number of welding robots. Genetic algorithms are applied to tackle those welding task sequencing problems. A genetic algorithm for traveling salesman problem (TSP) is utilized to determine welding task sequencing for a MultiWeldline-SingleLayer problem. Further, welding task sequencing for multiWeldline-MultiLayer welding is investigated and appropriate genetic algorithms are introduced. A random key genetic algorithm is also proposed to solve multi-robot welding sequencing : MultiWeldline with multi robots. Finally, the genetic algorithm are implemented for the welding task sequencing of three dimensional weld plate assemblies. Robot welding operations conforming to the algorithms are simulated in graphic detail using a robot simulation software IGRIP.

• Journal of Genetic Medicine
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• v.20 no.1
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• pp.1-5
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• 2023

Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene panels using diagnostic next-generation sequencing in association with patient phenotypes. However, several recent studies reported that the detection rate hardly exceeds 50% even when whole-exome sequencing is applied. Therefore, the necessity of introducing whole-genome sequencing is emerging to discover more diverse genomic variants and examine their association with rare diseases. When no diagnosis is provided by whole-genome sequencing, additional omics techniques such as RNA-seq also can be considered to further interrogate causal variants. This paper will introduce a description of these multi-omics techniques and their applications in rare disease studies.

• Journal of Digital Contents Society
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• v.10 no.2
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• pp.259-268
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• 2009

Although Sequencing & Navigation(S&N) of ADL SCORM 2004 specifies relatively simple ones of possible sequencing behaviors based on IMS SS(Simple Sequencing) in learning context, it is practically not easy to implement the sequencing properly within SCORM content packages. Actually, many Korean content developers construct SCORM content packages by choosing one out of well-known LSAL sequencing templates and just inserting their contents into it. In this paper, we survey a number of widely used SCORM sequencing templates provided by LSAL, ADL and Xerceo, and also domestic conventional SCORM sequencing models, and then present a new SCORM sequencing models well conformant to Korean e-learning environments. We finally develop 3 types of SCORM sequencing templates and their contents samples by applying our sequencing models to a number of available domestic SCOs. We expect that our products can be widely used and referenced as a guidance by content developers troubled in implementing a variety of SCORM sequencings.

• The KIPS Transactions:PartD
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• v.13D no.3 s.106
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• pp.425-436
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• 2006

The e-learning system in which the learning is carried out by predefined procedures cannot offer proper learning suitable to the capability of individual learner. To solve this problem, SCORM sequencing can be used to define various learning procedures according to the capabilities of learners. Currently the sequencing is designed by teachers or learning contents producers to regularize the learning program. However, the predefined sequencing may not reflect the characteristics of the learning group. If inappropriate sequencing is designed it may cause the unnecessary repetition of learning. In this paper, we propose an automated evaluation system in which dynamic sequencing is applied. The dynamic sequencing reflects the evaluation results to the standard scores used by sequencing. By changing the standard scores, the sequencing changes dynamically according to the evaluation results of a learning group. Through several experiments, we verified that the proposed learning system that uses the dynamic sequencing is effective for providing the proper learning procedures suitable to the capabilities of learners.

• Korean Journal of Clinical Laboratory Science
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• v.44 no.4
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• pp.167-177
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• 2012

Next-Generation Sequencing (NGS) is a term that means post-Sanger sequencing methods with high-throughput sequencing technologies. NGS parallelizes the sequencing process, producing thousands or millions of sequences at once. The latest NGS technologies use even single DNA molecule as a template and measures the DNA sequence directly via measuring electronic signals from the extension or degradation of DNA. NGS is making big impacts on biomedical research, molecular diagnosis and personalized medicine. The hospitals are rapidly adopting the use of NGS to help to patients understand treatment with sequencing data. As NGS equipments are getting smaller and affordable, many hospitals are in the process of setting up NGS platforms. In this review, the progress of NGS technology development and action mechanisms of representative NGS equipments of each generation were discussed. The key technological advances in the commercialized platforms were presented. As NGS platforms are a great concern in the healthcare area, the latest trend in the use of NGS and the prospect of NGS in the future in diagnosis and personalized medicine were also discussed.

• Journal of the Korean Institute of Intelligent Systems
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• v.14 no.1
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• pp.69-74
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• 2004

A sequencing problem is to find an ordered sequence of some entities which maximizes (or minimize) the domain specific objective function. As some typical examples of sequencing problems, there are traveling salesman problem, job shop scheduling, flow shop scheduling, and so on. This paper introduces a new type of sequencing problems, named a sequencing problem with fuzzy preference relation, where a fuzzy preference relation is provided for the evaluation of the quality of sequences. It presents how such a problem can be formulated in terms of objective function. It also proposes a genetic algorithm applicable to such a sequencing problem.

• Industrial Engineering and Management Systems
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• v.15 no.1
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• pp.1-10
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• 2016

This paper presents a fast sequencing algorithm for a mixed model assembly line with multiple workstations which minimize the total utility work and idle time. We compare the proposed algorithms with another heuristic, the Tsai-based heuristic, for a sequencing problem that minimizes the total utility works. Numerical experiments are used to evaluate the performance and effectiveness of the proposed algorithm. The Tsai-based heuristic performs best in terms of utility work, but the fast sequencing algorithm performs well for both utility work and idle time. However, the computational complexity of the fast sequencing algorithm is O (KN) while the Tsai-based algorithm is O (KNlogN). Actual computational time of the fast sequencing heuristic is 2-6 times faster than that of the Tsai-based heuristic.

• International conference on construction engineering and project management
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• 2007.03a
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• pp.573-582
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• 2007

Working spaces in the construction site are much more complicated than completed spaces in the building. There are many researches focus on partition of building spaces. However, few discussed partition sequencing in building construction sites. Space syntax is a set of techniques for analyzing spatial configurations. It has become a useful tool in a variety of researches. Partition sequencing of working spaces should be related to the working direction. However, with convex space and axial line, the partition sequencing became unrelated to the working direction. When critical space is blocked, the partition sequencing with axial line will be changed. It is significant to reveal the impact of the entire spatial structure when some of the working spaces are blocked. This paper discussed the improved partition sequencing theory and highlighted the importance of critical space and analyzed the spatial structure of working space. A real case project was demonstrated in this paper.

• Journal of Microbiology and Biotechnology
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• v.26 no.1
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• pp.207-212
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• 2016

PacBio's long-read sequencing technologies can be successfully used for a complete bacterial genome assembly using recently developed non-hybrid assemblers in the absence of second-generation, high-quality short reads. However, standardized procedures that take into account multiple pre-existing second-generation sequencing platforms are scarce. In addition to Illumina HiSeq and Ion Torrent PGM-based genome sequencing results derived from previous studies, we generated further sequencing data, including from the PacBio RS II platform, and applied various bioinformatics tools to obtain complete genome assemblies for five bacterial strains. Our approach revealed that the hierarchical genome assembly process (HGAP) non-hybrid assembler resulted in nearly complete assemblies at a moderate coverage of ~75x, but that different versions produced non-compatible results requiring post processing. The other two platforms further improved the PacBio assembly through scaffolding and a final error correction.