• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권1호
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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.

• 한국정밀공학회지
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• 제16권1호통권94호
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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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• 제20권1호
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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.

• 디지털콘텐츠학회 논문지
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• 제10권2호
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• pp.259-268
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• 2009

e-러닝 기술 표준안으로서 ADL의 SCORM 2004가 채택한 시퀀싱은 IMS SS(Simple Sequencing)을 기반으로 하며 학습 콘텐츠에서 사용될 수 있는 시퀀싱 행위 중 비교적 간단한 일부만을 정의하고 있으나 실제 시퀀싱 구현 방법은 이름과는 달리 간단하지 않다. 따라서 한국적 이러닝 콘텐츠 개발 환경에서는 LSAL 등에서 제공하는 SCORM 시퀀싱 템플릿을 그대로 사용하거나 필요에 따라 일부 편집하는 형태로 SCORM 시퀀싱을 구현하는 실정이며 일반적으로 기존 SCORM 시퀀싱 템플릿 중의 하나에 개발된 콘텐츠를 삽입하여 콘텐츠 패키지를 구성하는 방법을 사용하고 있는 실정이다. 본 연구에서는 LSAL, ADL, Xerceo 등에서 제공하는 SCORM 시퀀싱을 위한 기본 템플릿과 기존의 국내 SCORM 시퀀싱 모델을 분석하고 이를 바탕으로 한국적 현실에 부합하는 새로운 SCORM 시퀀싱 모델을 제시하였다. 또한 제시한 모델을 국내에서 활용중인 학습 콘텐츠에 적용하여 구체적 시퀀싱 템플릿과 콘텐츠 샘플들을 개발하였다. 본 연구의 결과물은 SCORM 시퀀싱 구현에 어려움을 겪고 있는 콘텐츠 개발자가 국내 환경에 적합하면서도 보다 세련된 형태의 SCORM 시퀀싱을 구현하기 위한 참조 모델로서 활용할 수 있다.

• 정보처리학회논문지D
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• 제13D권3호
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• pp.425-436
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• 2006

정형화된 교육 절차에 따라 학습을 수행하고 종료하는 방식의 e-learning으로는 학습자의 수준에 맞는 적절한 교육을 제공하기 어렵다. 이와 같은 문제점을 해결하기 위해 SCORM에서는 학습 결과에 따라 학습 절차를 규정하는 시퀀싱을 활용하여 학습자의 수준에 맞는 적절한 교육을 제공한다. 일반적으로 시퀀싱 설계는 교수자나 학습 저작자가 담당하여 학습 프로그램을 규칙화한다. 그러나 정형화된 시퀀싱은 학습 집단이나 학습자의 특성을 반영하지 못하며, 잘못된 시퀀싱이 설계되었을 경우에 학습자들이 불필요한 재학습을 수행해야 한다. 본 논문에서는 이와 같은 문제점을 해결하기 위해 동적 시퀀싱을 적용한 학습 평가 자동화 시스템을 제안한다. 동적 시퀀싱에서는 학습자들의 평가점수가 시퀀싱에서 활용하는 기준점수에 반영되어 기준점수를 동적으로 변화시킨다. 기준점수를 동적으로 변화시킴으로 시퀀싱은 학습 집단이나 학습자들의 수준에 맞게 동적으로 변화된다. 본 논문에서는 몇 가지 실험을 통하여 제안한 동적 시퀀싱을 적용한 학습 평가 자동화 시스템이 학습 집단이나 학습자의 수준에 적합한 교육 절차를 제공함을 보였다.

• 대한임상검사과학회지
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• 제44권4호
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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.

• 한국지능시스템학회논문지
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• 제14권1호
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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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• 제15권1호
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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.

• 국제학술발표논문집
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• The 2th International Conference on Construction Engineering and Project Management
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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.

• Korean Journal of Radiology
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• 제23권5호
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• pp.566-567
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• 2022