• Proceedings of the Korean Society of Life Science Conference
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• 2007.10a
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• pp.46.2-46.2
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• 2007

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• Journal of Genetic Medicine
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• v.19 no.1
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• pp.7-13
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• 2022

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

• Korean Journal of Clinical Laboratory Science
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• v.55 no.3
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• pp.203-212
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• 2023

Since the coronavirus disease-2019 (COVID-19) outbreak, it has been generally believed that a medical technologists (MTs) are supposed to perform polymerase chain reaction tests and next-generation sequencing (NGS) in the hospitals. However, many do not recognize that the duty of MT for clinical genetic testing has not been stated in the Medical Laws (72.5% for MT, N=200; 62.8% for students, N=123). In this regard, to evaluate the feasibility of MT's role for NGS genetic testing, we requested our subjects to fill out an online survey and analyzed the data. Among them, it shows that the scope of MT's role, including NGS performance should include clinical genetic testing (99.5% for MT, N=200; 86.8% for students, N=123). Also, questions on clinical genetics, which is associated with both cellular genetics and molecular genetic questions should be included in the National MT License Problem Bank (97.5% for MT; 71.4% for students). Based on these results, the Korean Association of Medical Technologists needs to cooperate synergically with the Academic Association of Biomedical Laboratory Science with respect to genetic education and legislation for the future benefit of both MTs and students.

• Korean Journal of Radiology
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• v.24 no.5
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• pp.378-383
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• 2023

• Journal of Korean Neurosurgical Society
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• v.67 no.3
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• pp.308-314
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• 2024

Vein of Galen aneurysmal malformation is one of important pediatric arteriovenous shunt diseases, especially among neonates and infants. Here, early history of the disease identification, basic pathoanatomy with a focus on the embryonic median prosencephalic vein, classification and differential diagnoses, and recent genetic studies are reviewed.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Proceedings of the Korean Society for Quality Management Conference
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• 1998.11a
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• pp.696-704
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• 1998

Artificial neural networks (ANN) have successfully applied into various areas. But, How to effectively established network is the one of the critical problem. This study will focus on this problem and try to extensively study. Firstly, four different learning algorithms ANNs were constructed. The learning algorithms include backpropagation, simulated annealing, genetic algorithm, and tabu search. The experimental results of the above four different learning algorithms were tested by statistical analysis. The training RMS, training time, and testing RMS were used as the comparison criteria.

• Korean Journal of Breeding Science
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• v.43 no.4
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• pp.322-329
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• 2011

Microsatellite markers were utilized to investigate genetic diversity among 70 Korean barley varieties (Hordeum vulgare). Ninety nine microsatellite primer pairs were screened for 9 varieties. Twenty primer pairs showed highly polymorphic. The relationship between markers genotypes and 70 varieties was analyzed. A total of 124 polymorphic amplified fragments were obtained by using 20 microsatellite markers. Two to nine SSR alleles were detected for each locus with an average of 6.2 alleles per locus. Average polymorphism information content (PIC) was 0.734, ranging from 0.498 to 0.882. A total of 124 marker loci were used to calculate Jaccard's distance coefficients for cluster analysis using UPGMA. Clustering group was divided 2 groups corresponding to 2-rowed and 6-rowed barley varieties. The phenogram was discriminated all varieties by markers genotypes. These markers may be used wide range of practical application in variety identification and genetic purity assessment of barley.

• Journal of KIISE
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• v.43 no.4
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• pp.480-488
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• 2016

Search-Based Software Testing (SBST) is an effective technique for test data generation on large domain size. Although the performance of SBST seems to be affected by the structural characteristics of Software Under Test (SUT), studies for the comparison of SBST techniques considering structural characteristics are rare. In addition to the comparison study for SBST, we analyzed the best algorithm with different structural characteristics of SUT. For the generalization of experimental results, we automatically generated 19,800 SUTs by combining four metrics, which are expected to affect the performance of SBST. According to the experiment results, Genetic algorithm showed the best performance for SUTs with high complexity and test data evaluation with count ${\leq}20,000$. On the other hand, the genetic simulated annealing and the simulated annealing showed relatively better performance for SUTs with high complexity and test data evaluation with count ${\geq}50,000$. Genetic simulated annealing, simulated annealing and hill climbing showed better performance for SUTs with low complexity.

• Genomics & Informatics
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• v.17 no.3
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• pp.33.1-33.3
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• 2019