• Title/Summary/Keyword: Genetic Testing

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Sublethal Assay of Pesticides and Phenols Using the Nematode Caenorhabditis elegans

  • Hwa, Jung-Ki;Jung, Baek-Su;Young, Choung-Se
    • Proceedings of the Korea Society of Environmental Toocicology Conference
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    • 2003.05a
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    • pp.146-147
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    • 2003
  • The free-living nematode, Caenorhabditis elegans (C. elegans) has been adopted as a multicellular biosensor of biological toxicity for alkylphenol, organotin compounds and heavy metals. To adopt as a biosensor, suitability to assess must be fulfilledthrough several criteria; the organism must be sensitive to the testing toxicants, easy to manage in the laboratory and available throughout the year. C. elegans widely used as a simple multicellular organism in developmental biology studies and satisfies all these criteria, and its culture conditions, developmental staging, anatomy and genetic properties are well defined. In addition, researchers can take advantage of the worm's short life cycle, low cost and little individual variation. Moreover, genomic sequencing of C. elegans has recently been completed. With these aspectsof the organism, C. elegans become a more potent model organism for basic and applied bioassays.

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A Study on the Design of Multi-FNN Using HCM Method (HCM 방법을 이용한 다중 FNN 설계에 관한 연구)

  • Park, Ho-Sung;Yoon, Ki-Chan;Oh, Sung-Kwun
    • Proceedings of the KIEE Conference
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    • 1999.11c
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    • pp.797-799
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    • 1999
  • In this paper, we design the Multi-FNN(Fuzzy-Neural Networks) using HCM Method. The proposed Multi-FNN uses simplified inference as fuzzy inference method and Error Back Propagation Algorithm as learning rules. Also, We use HCM(Hard C-Means) method of clustering technique for improvement of output performance from pre-processing of input data. The parameters such as apexes of membership function, learning rates and momentum coefficients are adjusted using genetic algorithms. We use the training and testing data set to obtain a balance between the approximation and the generalization of our model. Several numerical examples are used to evaluate the performance of the our model. From the results, we can obtain higher accuracy and feasibility than any other works presented previously.

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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

  • Lee, Sun Ho;Song, Wung Joo
    • Genomics & Informatics
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    • v.15 no.3
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    • pp.82-86
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    • 2017
  • Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

Correlation Analysis between the Breeding Value of Carcass Traits in Hanwoo (Korean Brown Cattle), Bos Taurus, L. and Spot Intensity on Two-dimensional Gel Electrophoresis

  • Seo, Kang Seok;Shen, Y.N.;Salces, A.J.;Yoon, D.H.;Lee, H.G.;Kim, S.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.10
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    • pp.1404-1408
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    • 2006
  • In order to investigate the genetic marker associated with economic performance in Hanwoo (Korean Brown Cattle), proteomic approach was used. Breeding values were estimated from performance tested steers. The top 20 and bottom 19 steers based on carcass weight (CW), eye muscle area (EMA), backfat thickness (BF) and marbling score (MS) evaluation for one progeny testing period was used. Meat samples dissected from longissimus dorsi muscles were taken from the slaughter house and analyzed for two-dimensional gel electrophoresis. A total of 102 significant spots out of total 146 on each gel were detected and compared with the reference gel (synthetic gel) to be evaluated. Four candidate spots for marbling score were identified: 205, 84, 204 and 198. The study confirmed the relationship between breeding values of economic traits of Hanwoo cattle and spot intensity.

Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl

  • Seo, Sun Young;You, Su Jeong
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.157-160
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    • 2016
  • Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.

Fuzzy Identification by means of Fuzzy Inference Method and its Optimization by GA (퍼지 추론 방법을 이용한 퍼지 동정과 유전자 알고리즘에 의한 이의 최적화)

  • Park, Byoung-Jun;Park, Chun-Seong;Ahn, Tae-Chon;Oh, Sung-Kwun
    • Proceedings of the KIEE Conference
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    • 1998.07b
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    • pp.563-565
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    • 1998
  • In this paper, we are proposed optimization method of fuzzy model in order to complex and nonlinear system. In the fuzzy modeling, a premise identification is very important to describe the charateristics of a given unknown system. Then, the proposed fuzzy model implements system structure and parameter identification, using the fuzzy inference method and genetic algorithms. Inference method for fuzzy model presented in our paper include the simplified inference and linear inference. Time series data for gas furance and sewage treatment process are used to evaluate the performance of the proposed model. Also, the performance index with weighted value is proposed to achieve a balance between the results of performance for the training and testing data.

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Multidisciplinary optimization of collapsible cylindrical energy absorbers under axial impact load

  • Mirzaei, M.;Akbarshahi, H.;Shakeri, M.;Sadighi, M.
    • Structural Engineering and Mechanics
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    • v.44 no.3
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    • pp.325-337
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    • 2012
  • In this article, the multi-objective optimization of cylindrical aluminum tubes under axial impact load is presented. The specific absorbed energy and the maximum crushing force are considered as objective functions. The geometric dimensions of tubes including diameter, length and thickness are chosen as design variables. D/t and L/D ratios are constricted in the range of which collapsing of tubes occurs in concertina or diamond mode. The Non-dominated Sorting Genetic Algorithm-II is applied to obtain the Pareto optimal solutions. A back-propagation neural network is constructed as the surrogate model to formulate the mapping between the design variables and the objective functions. The finite element software ABAQUS/Explicit is used to generate the training and test sets for the artificial neural networks. To validate the results of finite element model, several impact tests are carried out using drop hammer testing machine.

Clinical significance of sonographic soft markers: A review

  • Kim, Mi Sun;Kang, Sukho;Cho, Hee Young
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.1-7
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    • 2018
  • Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no uniform recommendations regarding when to disregard or put on clinical significance in isolated soft markers. Associations between some soft markers and adverse pregnancy outcomes including intrauterine fetal death, preterm birth, fetal growth restriction, and congenital infection have been reported in euploidy fetuses. The present article aims to review recent literatures about the clinical significance of soft markers after normal first trimester combined screening or noninvasive prenatal testing, and propose a simple clinical summary for management of specific soft markers in pregnancies.

A Study on Optimal Fuzzy Identification by means of Hybrid Identification Algorithm

  • Park, Byoung-Jun;Park, Chun-Seong;Oh, Sung-Kwun
    • 제어로봇시스템학회:학술대회논문집
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    • 1998.10a
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    • pp.215-220
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    • 1998
  • In order to optimize fuzzy model, we use the optimal algorithm with a hybrid type in the identification of premise parameters and standard least square method in the identification of consequence parameters of a fuzzy model. The hybrid optimal identification algorithm is carried out using a genetic algorithm and improved complex method. Also, the performance index with weighting factor is proposed to achieve a balance between the insults of performance for the training and testing data. Several numerical examples are used to evaluate the performance of the proposed model.

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Pure Cerebellar Ataxia Presenting in the SCA 1 (순수 소뇌실조증의 임상 양상으로 SCA 1의 과도한 CAG 반복서열을 보인 유전성 소뇌실조증 가족 1례)

  • Song, Eun-Hyang;Lee, Chung-Seok;Kim, Woo-Jung;Kim, Doo-Eung
    • Annals of Clinical Neurophysiology
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    • v.3 no.2
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    • pp.151-155
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    • 2001
  • SCA 1 is an autosomal dominant disorder. The phenotypic manifestations of SCA 1 are not specific, and thus, the diagnosis of SCA 1 rests on molecular genetic testing. The number of CAG repeats ranges from 6-44 in normal alleles and from 39-81 repeats in disease-causing alleles(chromosomal locus 6p22-23). The main clinical features of SCA 1 are ataxia, dysarthria, ophthalmoparesis, extrapyramidal signs without retinal degeneration. A 24-year-old woman with suspected family history presented with progressive cerebellar ataxia, dysarthria, ptosis, titubation and general weakness. Brain MRI revealed a moderate cerebellar atrophy. A genomic polymerase chain reaction(PCR) analysis showed 66 repeats at the SCA 1 locus.

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