• Journal of Genetic Medicine
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• 제20권2호
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• pp.46-51
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• 2023

Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

• 한국정보통신학회논문지
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• 제26권1호
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• pp.64-69
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• 2022

공공기술 사업화는 정부가 주도하는 과학기술의 혁신과 R&D 성과를 민간에 이전하는 것으로 경제 성장을 주도하는 핵심 성과로 인식되고 있다. 따라서 기술 이전을 활성화시키기 위해 성공 요인을 식별하거나 사업화 가능성이 높은 공공기술과 수요기업을 매칭하는 다양한 기계학습의 방법들이 연구되고 있다. 하지만 공공기술 사업화 데이터는 표 형태로 구성되어 있고, 성공-실패 비율이 큰 차이를 보이는 불균형 상태이기 때문에 기계학습 성능이 높지 않는 문제점을 가지고 있다. 이 논문에서는 표 형태로 구성된 공공기술 데이터에서 불균형을 해소하기 위해 CTGAN을 활용하는 방법을 제시한다. 또한 제시된 방법의 효과를 검증하기 위해 실제 공공기술 사업화 데이터를 활용하여 통계적 접근방법인 SMOTE와 비교 실험을 수행하였다. 다수의 실험 사례에서 CTGAN은 공공기술 사업화 성공사례를 안정적으로 예측하는 것을 확인하였다.

• BMB Reports
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• 제36권5호
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• pp.427-432
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• 2003

Jute is the principal coarse fiber for commercial production and use in Bangladesh. Therefore, the development of a high-yielding and environmental-stress tolerant jute variety would be beneficial for the agro economy of Bangladesh. Two molecular fingerprinting techniques, random-amplified polymorphic DNA (RAPD) and amplified-fragment length polymorphism (AFLP) were applied on six jute samples. Two of them were cold-sensitive varieties and the remaining four were cold-tolerant accessions. RAPD and AFLP fingerprints were employed to generate polymorphism between the cold-sensitive varieties and cold-tolerant accessions because of their simplicity, and also because there is no available sequence information on jute. RAPD data were obtained by using 30 arbitrary oligonucleotide primers. Five primers were found to give polymorphism between the varieties that were tested. AFLP fingerprints were generated using 25 combinations of selective-amplification primers. Eight primer combinations gave the best results with 93 polymorphic fragments, and they were able to discriminate the two cold-sensitive and four cold-tolerant jute populations. A cluster analysis, based on the RAPD and AFLP fingerprint data, showed the population-specific grouping of individuals. This information could be useful later in marker-aided selection between the cold-sensitive varieties and cold-tolerant jute accessions.

• BMB Reports
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• 제40권2호
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• pp.226-231
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• 2007

Housekeeping genes are widely used as internal controls in a variety of study types, including real time RT-PCR, microarrays, Northern analysis and RNase protection assays. However, even commonly used housekeeping genes may vary in stability depending on the cell type or disease being studied. Thus, it is necessary to identify additional housekeeping-type genes that show sample-independent stability. Here, we used statistical analysis to examine a large human microarray database, seeking genes that were stably expressed in various tissues, disease states and cell lines. We further selected genes that were expressed at different levels, because reference and target genes should be present in similar copy numbers to achieve reliable quantitative results. Real time RT-PCR amplification of three newly identified reference genes, CGI-119, CTBP1 and GOLGAl, alongside three well-known housekeeping genes, B2M, GAPD, and TUBB, confirmed that the newly identified genes were more stably expressed in individual samples with similar ranges. These results collectively suggest that statistical analysis of microarray data can be used to identify new candidate housekeeping genes showing consistent expression across tissues and diseases. Our analysis identified three novel candidate housekeeping genes (CGI-119, GOLGA1, and CTBP1) that could prove useful for normalization across a variety of RNA-based techniques.

• 대한기계학회:학술대회논문집
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• 대한기계학회 2001년도 춘계학술대회논문집B
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• pp.42-47
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• 2001

Analyzing the ECG signal, we can find heart disease, for example, arrhythmia and myocardial infarction, etc. Particularly, detecting arrhythmia is more important, because serious arrhythmia can take away the life from patients within ten minutes. In this paper, we would like to introduce the signal processing for ECG analysis and the device made for wireless communication of ECG data. In the signal processing, the wavelet transform decomposes the ECG signal into high and low frequency components using wavelet function. Recomposing the high frequency bands including QRS complex, we can detect QRS complex and eliminate the noise from the original ECG signal. To recognize the ECG signal pattern, we adopted the polynomial approximation partially and statistical method. The ECG signal is divided into small parts based on QRS complex, and then, each part is approximated to the polynomials. Comparing the approximated ECG pattern with the database, we can detect and classify the heart disease. The ECG detection device consists of amplifier, filters, A/D converter and RF module. After amplification and filtering, the ECG signal is fed through the A/D converter to be digitalized. The digital ECG data is transmitted to the personal computer through the RF transceiver module and serial port.

• Journal of Advanced Marine Engineering and Technology
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• 제33권6호
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• pp.918-924
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• 2009

This paper deals with the experimental assessment of the vibration suppression of the smart structures. First, we have presented the paper about the new high-speed active control system that we have developed using the DSP320C6713 microprocessor and a peripheral system composed of a data acquisition system, A/D and D/A converters, piezoelectric (PZT) actuator/sensors, and drivers using PA95. Since fast data processing is very important in the active vibration control of the structures, we utilized the fast processing DSP320C6713 microprocessor as a main processor to the controller and fast peripheral devices for fast control loop. To realize a fast active vibration control, we have analyzed and tested the processing time of the peripheral devices and provided the corresponding test results. Especially, we have focused on achieving the fast signal amplification of the PA95 device since it takes most of loop times of the control system. Finally, we performed numerous experiments of active vibration control of the aluminum plate to validate the superior performance of the developed control system based on previous mode tests of the plate.

• Earthquakes and Structures
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• 제9권5호
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• pp.983-997
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• 2015

This research evaluates the soil conditions for seismic stations situated in Romania using the horizontal-to-vertical spectral ratio (HVSR). The strong ground motion database assembled for this study consists of 179 analogue and digital strong ground motion recordings from four intermediate-depth Vrancea seismic events with $M_w{\geq}6.0$. In the first step of the analysis, the influence of the earthquake magnitude and source-to-site distance on the H/V curves is evaluated. Significant influences from both the earthquake magnitude and hypocentral distance are found especially for soil class A sites. Next, a site classification method proposed in the literature is applied for each seismic station and the soil classes are compared with those obtained from borehole data and from the topographic slope method. In addition, the success and error rates of this method are computed and compared with other studies from the literature. A more in-depth analysis of the H/V results is performed using data from seismic stations in Bucharest and a comparison of the free-field and borehole H/V curves is done for three seismic stations. The results show large differences between the free-field and the borehole curves. As a conclusion, the results from this study represent an intermediary step in the evaluation of the soil conditions for seismic stations in Romania and the need to perform more detailed soil classification analysis is highly emphasized.

• Nuclear Engineering and Technology
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• 제35권2호
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• pp.165-170
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• 2003

We developed an improved 3-PM liquid scintillation counting (3-PM LSC) method in which three detectors can be displaced to back and forth directions, and a data acquisition system being able to provide the values for all parameters required for the method. The detectors are entirely located in a 20-mm lead chamber of an inner diameter of 500 mm. A saw-toothed gear ties up all detectors so as to move them uniformly, up to 50 mm with unit of 1 mm. The data acquisition system was designed in an integrated circuit to perform the necessary works such as fast amplification, discrimination, coincidence and logic analysis. It generates values of nine parameters among twelve's generated in the 3-PH LSC method. The dead time of each counting channel is of extending type, valving from 10 to 100 $mutextrm{s}$. We measured the TDCR values with an unquenched liquid scintillation source 1"C by displacing the detectors with a step of 2.5 mm away from counting vial. Their values were derived on the range from 0.9 to 0.6. The extent is three times wider than those regions observed by applying the defocalization technique.ique.

• 한국지구과학회지
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• 제31권6호
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• pp.541-554
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• 2010

한반도 남서부 지역의 상시미동의 특성을 알아보기 위하여, 해안 지역(군산 136 지점)과 내륙 지역(전주 117 지점)에서 15분 씩 상시미동 자료를 획득하여 수평 대 수직 스펙트럼 비(HVSR, Horizontal to Vertical Spectral Ratio) 분석을 실시하였다. 상시미동의 에너지 스펙트럼은 내륙 지역에 비해 해안 지역에서 저주파 대역의 에너지가 크다. 이것은 서해의 파랑과 조류, 군산의 북쪽을 지나는 금강의 영향으로 보인다. 상시미동을 24시간 관측한 결과, 인간 활동과 연관된 상시미동 에너지는 변하나 상시미동 HVSR의 정점주파수($F_0$)는 변함이 없어, 하루 중 어느 시간에 관측해도 $F_0$의 안정된 값을 구할 수 있음을 시사한다. 관측점의 상시미동 피크를 싱글피크(single peak), 더블피크(double peak), 브로드피크(broad peak), 노피크(no peak)의 4 종류로 분류한 결과, 전체 관측점의 90 % 이상에서 정점주파수를 구할 수 있었다. 상시미동 $F_0$ 분포도는 기반암의 깊이가 얕은 구릉지에서 높은 주파수를, 하천 부근과 매립지에서 낮은 주파수를 보여 지형과 높은 상관관계를 보였다. 상시미동 $F_0$의 진폭($A_0$)은 전주지역에서는 하천의 하류에서 약 4 정도, 군산지역의 최근 매립지에서 대단히 높은 값(10 이상)을 나타낸다. 지진 발생시 매립지의 피해를 줄이기 위해서는 매립지의 부지반응에 대한 연구와 이에 따른 재해대책이 요구된다.

• 한국지반환경공학회 논문집
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• 제20권5호
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• pp.5-12
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• 2019

2017년 11월 15일 발생한 $M_L=5.4$의 포항지진으로 액상화 피해사례가 접수되었으며 이에 대한 많은 연구가 수행 중에 있다. 지진에 의한 피해사례가 전무하였던 우리나라의 경우, 예방 및 대비에 해당하는 지진위험지도 작성과 지진 및 지진해일 관측시스템의 구축에 매우 소극적이었다. 지진은 가뭄, 홍수나 태풍 등과 달리, 발생 징후를 관찰하고 그 영향 및 규모를 미리 예측하기란 거의 불가능에 가깝기 때문에 예방 및 대비차원의 액상화 위험지도와 같은 지진재해지도 구축은 매우 효과적일 수 있다. 본 연구는 수도권지역 14,040개의 시추공 데이터를 수집하여 지반증폭계수를 이용한 액상화 평가를 우선적으로 실시하고 최대기반암가속도는 재현주기 200년부터 4,800년을 포함하는 최대기반암가속도 0.06g, 0.14g, 0.22g, 0.30g에 대한 액상화 위험지도를 작성하였다. 또한, 실시간 예측 가능한 액상화 위험지도 작성을 위해 지진가속도와 상관관계 분석을 실시하였으며 그 결과로 수치지도의 모든 셀에 해당하는 상관식이 제안되었다. 최종적으로 제안된 상관식을 이용하여 가상의 지진에 대한 액상화 위험지도를 작성하였다.