• 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

• Genomics & Informatics
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• v.10 no.2
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• pp.117-122
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• 2012

A sample size with sufficient statistical power is critical to the success of genetic association studies to detect causal genes of human complex diseases. Genome-wide association studies require much larger sample sizes to achieve an adequate statistical power. We estimated the statistical power with increasing numbers of markers analyzed and compared the sample sizes that were required in case-control studies and case-parent studies. We computed the effective sample size and statistical power using Genetic Power Calculator. An analysis using a larger number of markers requires a larger sample size. Testing a single-nucleotide polymorphism (SNP) marker requires 248 cases, while testing 500,000 SNPs and 1 million markers requires 1,206 cases and 1,255 cases, respectively, under the assumption of an odds ratio of 2, 5% disease prevalence, 5% minor allele frequency, complete linkage disequilibrium (LD), 1:1 case/control ratio, and a 5% error rate in an allelic test. Under a dominant model, a smaller sample size is required to achieve 80% power than other genetic models. We found that a much lower sample size was required with a strong effect size, common SNP, and increased LD. In addition, studying a common disease in a case-control study of a 1:4 case-control ratio is one way to achieve higher statistical power. We also found that case-parent studies require more samples than case-control studies. Although we have not covered all plausible cases in study design, the estimates of sample size and statistical power computed under various assumptions in this study may be useful to determine the sample size in designing a population-based genetic association study.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.8
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• pp.1098-1102
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• 2018

Objective: Temperament can be defined as a type of behavioral tendency that appears in a relatively stable manner in responses to various external stimuli over time. The aim of this study was to estimate genetic parameters for the records of temperament testing that are used to improve the temperament of Jeju crossbred (Jeju${\times}$Thoroughbred) horses. Methods: This study was conducted using 205 horses (101 females and 104 males) produced between 2010 and 2015. The experimental animals were imprinted and tamed according to the Manual for Horse Taming and Evaluation for Therapeutic Riding Horses and evaluated according to the categories for temperament testing (gentleness, patience, aggressiveness, sensitivity, and friendliness) between 15 months and 18 months of age. Each category was scored on a five-point linear scale. Genetic parameters for the test categories were analyzed using a multi-trait mixed model with repeated records. The ASReml program was used to analyze the data. Results: The heritability of gentleness, patience, aggressiveness, sensitivity and friendliness ranged from 0.08 to 0.53. The standard errors of estimated heritability ranged from 0.13 to 0.17. The test categories showed high genetic correlations with each other, ranging from 0.96 to 0.99 and high repeatability, ranging from 0.70 to 0.73. Conclusion: The results of this study showed that the test categories had moderate heritability and high genetic correlations, but additional studies may be necessary to use the results for the improvement programs of the temperament of Jeju crossbred horses.