• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.

• 인터넷정보학회논문지
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• 제25권1호
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• pp.147-155
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• 2024

현재 4차 산업 혁명은 다른 혁명처럼 인류에게 커다란 변화와 새로운 삶을 가져다주고 있으며, 특히 빅데이터, 인공지능, ICT 등 다양한 기술들을 합쳐 응용할 수 있는 드론에 대한 수요와 활용도가 증가하고 있다. 최근에는 러시아-우크라이나 전쟁, 북한의 대남 정찰 등 위험한 군사 작전 및 임무를 수행하는 데 많이 사용되고 있으며 드론에 대한 수요와 활용도가 높아짐에 따라 드론의 안전성과 보안에 대한 우려가 커지고 있다. 현재 드론에 관련된 무선 통신 이상 탐지, 센서 데이터 이상 탐지 등 다양한 연구가 진행되고 있지만, 무선 주파수 특성 데이터를 사용하여 위협을 실시간으로 탐지하는 연구는 미비하다. 따라서, 본 논문에서는 실제 환경과 유사한 HITL(Hardware In The Loop) 시뮬레이션 환경에서 드론이 미션을 수행하는 동안 지상 제어 시스템과 통신하면서 발생하는 무선 주파수 신호 특성 데이터를 수집하여 특성 데이터가 정상 신호 데이터인지 비정상 신호 데이터인지 판단하는 연구를 진행하였다. 또한, 드론이 미션을 수행하는 중 실시간으로 위협 신호를 탐지할 수 있는 비지도 학습 기반의 위협 탐지 시스템 및 최적의 임계값을 제안한다.

• Journal of Positioning, Navigation, and Timing
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• 제11권2호
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• pp.109-117
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• 2022

This paper proposes a method for detecting flight anomalies of drones through the difference between the command of flight controller (FC) and the navigation solution. If the drones make a flight normally, control errors generated by the difference between the desired control command of FC and the navigation solution should converge to zero. However, there is a risk of sudden change or divergence of control errors when the FC control feedback loop preset for the normal flight encounters interferences such as strong winds or navigation sensor abnormalities. In this paper, we propose the method with a deep neural network model that predicts the control error in the normal flight so that the abnormal flight state can be detected. The performance of proposed method was evaluated using the real-world flight data. The results showed that the method effectively detects anomalies in various situation.

• 한국정보통신학회:학술대회논문집
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• 한국정보통신학회 2022년도 춘계학술대회
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• pp.636-638
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• 2022

본 논문은 의료진단 검출 분야에서 혈관, 신경조직, 망막 손상 그리고 다양한 심혈관계 질환과 치매까지 진단하는 데 유용하게 사용하고 있는 안저 영상에 CNN(Convolution Neural Network) 알고리즘을 적용하고 녹내장 병변을 검출하기 위한 연구를 진행한다. 실험을 위하여 정상 안저 영상과 녹내장 병변이 있는 안저 영상으로 구성된 데이터 세트를 AlexNet으로 분류하고 그 성능을 확인하였다.

• 한국정보통신학회논문지
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• 제26권2호
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• pp.313-316
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• 2022

In this paper, we implement a system that detects abnormalities in the charging data transmitted from the charger during the charging process of electric vehicles and controls them remotely. Using classification algorithms such as logistic regression, KNN, SVM, and decision trees, to do this, an analysis model is created that judges the data received from the charger as normal and abnormal. In addition, a model is created to determine the cause of the abnormality using the existing charging data based on the analysis of the type of charger abnormality. Finally, it is solved using unsupervised learning method to find new patterns of abnormal data.

• 한국정보통신학회논문지
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• 제21권11호
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• pp.2037-2042
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• 2017

스마트 공장은 미리 입력된 프로그램에 의해 생산시설이 수동적으로 움직이는 공장 자동화 작업 방식과는 달리, 생산 설비 스스로 작업 방식을 결정하여야 한다. 생산 설비 스스로 작업 방식을 결정이라 함은, 이를테면 제조 현장에서 설비의 노후, 문제 발생 예측, 제품의 불량 검출 등과 같은 이상 징후가 발생할 시 이를 조기에 발견한 후 스스로 문제를 해결하는 것을 의미한다. 본 논문에서는 제조 현장의 제조 공정 이상 징후 감지를 위해 대기행렬을 이용한 제조 공정 모델링을 제시하고 해당 모델링에서 이상 징후를 기계학습 기술 중 하나인 SVM을 이용하여 이를 감지하도록 한다. 해당 대기행렬을 M/D/1을 사용하였으며, ${\mu}$, ${\lambda}$, ${\rho}$를 기반으로 컨베이어 벨트 제조 시스템을 모델링하였다. SVM을 이용하여 ${\rho}$의 변화량을 통해 이상 징후를 감지했다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7343-7350
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• 2015

Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

• 대한소아치과학회지
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• 제26권1호
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• pp.146-150
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• 1999

치아발육시기의 항암치료는 치아에 영향을 줄 수 있으며 이에 대한 예상 및 적절한 치료계획수립이 필요하다. 본 증례에서 환자의 왜소치는 항암 화학요법과 관련되어 발생한 것으로 추정되며, 이에 대한 장기적 관찰 및 치료가 필요할 것으로 사료된다.

• 한국발생생물학회:학술대회논문집
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• 한국발생생물학회 1998년도 제4차 학술발표대회 및 정기총회
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• pp.12-18
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• 1998

Tremendous progress has been made over the past quarter-century studying the genetics of gametogenesis and the resulting gametes and embryos. Studies merging molecular techniques and conventional cytogenetics are now beginning to bridge the gap between what we have learned about the meiotic process in males and females and what we know of the mitotic chromosomes of zygotes. Numerical abnormalities in sperm, oocytes and embryo can now diagnosed by fluorescence in situ hybridization (FISH). "At risk" couples can, therefore, have only unaffected embryos replaced in the sterus and avoid the possibility of terminating a pregnancy that might only be diagnosed as affected later gestation. Single-cell genetic analysis has also provided powerful tools for studying genetic defects arising during early human development. Recent studies of sperms, oocytes and cleavage-stage human embryos have revealed an unexpectedly high incidence. These genetic abnormalities are likely to contribute to early pregnancy loss and have important implications for improving pregnancy rates in infertile couples by assisted reproduction. The widespread use of preimplantation genetic diagnosis (PGD) awaits further documentatio of safety and accuracy. Other issues also must be addressed. First, the ethical issues regarding germ cell and embryo screening must be addressed including what diseases are serious enough to warrant the procedure. Another concern is the use of this technology for non-genetic disorders such as gender selection. Finally, the experimental nature of these procedure must continually be discussed with patients, and long-term follow-up studies must be undertaken. Development of more accurate and less expensive assays coupled with improved assisted reproductive technology success rates may make PGD a more widely use clinical tool. The future awaits these development.velopment.

• Imaging Science in Dentistry
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• 제49권3호
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• pp.191-199
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• 2019

Purpose: To compare the diagnostic ability of undergraduate dental students to detect maxillary sinus abnormalities in panoramic radiographs(PR) and cone-beam computed tomography (CBCT). Materials and Methods: This was a retrospective study based on the evaluation of PR and CBCT images. A pilot study was conducted to determine the number of students eligible to participate in the study. The images were evaluated by 2 students, and 280 maxillary sinuses were assessed using the following categories: normal, mucosal thickening, sinus polyp, antral pseudocyst, nonspecific opacification, periostitis, antrolith, and antrolith associated with mucosal thickening. The reference standard was established by the consensus of 2 oral radiologists based on the CBCT images. The kappa test, receiver operating characteristic curves, and 1-way analysis of variance with the Tukey-Kramer post-hoc test were employed. Results: Intraobserver and interobserver reliability showed agreement ranging from substantial (0.809) to almost perfect (0.922). The agreement between the students' evaluations and the reference standard was reasonable (0.258) for PR and substantial(0.692) for CBCT. Comparisons of values of sensitivity, specificity, and accuracy showed that CBCT was significantly better(P<0.05). Conclusion: CBCT was better than PR for the detection of maxillary sinus abnormalities by dental students. However, CBCT should only be requested after a careful analysis of PR by students and more experienced professionals.