• Asian Pacific Journal of Cancer Prevention
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• v.14 no.12
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• pp.7149-7154
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• 2013

Objective: Increasing scientific evidence suggests that common variants in the PALB2 gene may confer susceptibility to breast cancer, but many studies have yielded inconclusive results. This meta-analysis aimed to derive a more precise estimation of the relationship between PALB2 genetic variants and breast cancer risk. Methods: An extensive literary search for relevant studies was conducted in PubMed, Embase, Web of Science, Cochrane Library, CISCOM, CINAHL, Google Scholar, CNKI and CBM databases from their inception through September 1st, 2013. A meta-analysis was performed using the STATA 12.0 software and crude odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Results: Six case-control studies were included with a total of 4,499 breast cancer cases and 6,369 healthy controls. Our meta-analysis reveals that PALB2 genetic variants may increase the risk of breast cancer (allele model: OR>1.36, 95%CI: 1.20~1.52, P < 0.001; dominant model: OR>1.64, 95%CI: 1.42~1.91, P < 0.001; respectively). Subgroup analyses by ethnicity indicated PALB2 genetic variants were associated with an increased risk of breast cancer among both Caucasian and Asian populations (all P < 0.05). No publication bias was detected in this meta-analysis (all P > 0.05). Conclusion: The current meta-analysis indicates that PALB2 genetic variants may increase the risk of breast cancer. Thus, detection of PALB2 genetic variants may be a promising biomarker approach.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.49 no.1
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• pp.69-72
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• 2004

Somaclonal variation, defined as phenotypic and genetic variations among regenerated plants from a parental plant, could be caused by changes in chromosome structure, single gene mutation, cytoplasm genetic mutation, insertion of transposable elements, and DNA methylation during plant regeneration. The objective of this study was to evaluate DNA variations among somaclonal variants from the cotyledonary node culture in soybean. A total of 61 soybean somaclones including seven $\textrm{R}_1$ lines and seven $\textrm{R}_2$ lines from Iksannamulkong as well as 27 $\textrm{R}_1$ lines and 20 $\textrm{R}_2$ lines from Jinju 1 were regenerated by organogenesis from the soybean cotyledonary node culture system. Field evaluation revealed no phenotypic difference in major agronomic traits between somaclonal variants and their wild types. AFLP and SSR analyses were performed to detect variations at the DNA level among somaclonal variants of two varieties. Based on AFLP analysis using 36 primer sets, 17 of 892 bands were polymorphic between Iksannamulkong and its somaclonal variants and 11 of 887 bands were polymorphic between Jinju 1 and its somaclonal variants, indicating the presence of DNA sequence change during plant regeneration. Using 36 SSR markers, two polymorphic SSR markers were detected between Iksannamulkong and its somaclonal variants. Sequence comparison amplified with the primers flanking Satt545 showed four additional stretches of ATT repeat in the variant. This suggests that variation at the DNA level between somaclonal variants and their wild types could provide basis for inducing mutation via plant regeneration and broadening crop genetic diversity.

• Genomics & Informatics
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• v.19 no.1
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• pp.3.1-3.12
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• 2021

Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung cancer, we categorize regulatory elements based on eight major cell types of human lung tissue. Our results show that 21.68% of lung cancer-associated risk variants are linked to noncoding regulatory elements, nearly half of which are cell type-specific. Integrative analysis of high-resolution long-range chromatin interactome maps and single-cell RNA-sequencing data of lung tumors uncovers number of putative target genes of these variants and functionally relevant cell types, which display a potential biological link to cancer susceptibility. The present study greatly expands the scope of functional annotation of lung cancer-associated genetic risk factors and dictates probable cell types involved in lung carcinogenesis.

• Proceedings of the Korean Society of Plant Pathology Conference
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• 2003.10a
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• pp.143.1-143
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• 2003

Hop stunt viroid(HSVd) is a plant pathogen which infect a number of hosts such as grapevine, Citrus and Prunus plants. Sequence variants of HSVd have been divided into three types(i. grapevine and hop, ii. citrus, iii. plum, peach, apricot and almond). Purified RNAs from plum trees were used for the synthesis of cDNA with reverse transcription and amplified by polymerase chain reaction. Cloned cDNAs were sequenced and two different consensus sequence variants were detected. A neighbor-joining analysis was carried out on the sequence variants together with 62 previously described variants of HSVd from hop, plum and other species. Sequence variants from plum trees cultivated in Korea were clustered in HSVd-plum subtype and not in HSVd-hop subtype which were two Korean isolates belongs. These relationship between sequence variants from plum and two Korean isolates in HSVd-hop type supports the other origin for hop stunt disease.

• Korean Journal of Head & Neck Oncology
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• v.14 no.1
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• pp.76-80
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• 1998

Generally, the papillary carcinoma generally has a favorable prognosis, and several variants of pathologic heterogeneity are recognized. Variants that are regarded as more aggressive are tall cell, columnar cell, and diffuse sclerosing types. Seventeen cases of papillary thyroid carcinoma showing clinically aggressive behavior, invading extrathyroidal structures, were retrospectively reviewed to evaluate the morphological variants of the tumors. Six of them were found to be pure papillary and nine were mixed types regarded as non-aggressive variants. Four cases were found to be tall cell variants, two cases of non-extrathryoidal invasion and two of extrathyroidal invasion regarded as aggressive variants. Our findings suggest that the prognosis of papillary carcinoma not always be based on its morphological variant and more attention should be given to other clinical parameters.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.10 no.8
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• pp.1986-1992
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• 2009

A user often searches a data by inputting a variant such as the abbreviation or substring of a word, or a misspelled word. The simple approach to the searching for variants is to build a variants dictionary. However, it entails enormous cost and time and can not handle variants by misspelling. Approximate searching, searching by approximate string matching, is a good approach to the searching. A problem in the approach is that it cannot handle variants by abbreviations. This paper propose a method for searching various variants including abbreviations and misspelled words, by using the trie indexing. First, this paper shows a variant matching method with the calculation of path weighted-metric. In addition, it provides variant searching algorithm to reduce the search time.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.51-54
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• 2020

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

• Journal of Information Processing Systems
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• v.17 no.4
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• pp.851-865
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• 2021

Enterprise networks in the PyeongChang Winter Olympics were hacked in February 2018. According to a domestic security company's analysis report, attackers destroyed approximately 300 hosts with the aim of interfering with the Olympics. Enterprise have no choice but to rely on digital vaccines since it is overwhelming to analyze all programs executed in the host used by ordinary users. However, traditional vaccines cannot protect the host against variant or new malware because they cannot detect intrusions without signatures for malwares. To overcome this limitation of signature-based detection, there has been much research conducted on the behavior analysis of malwares. However, since most of them rely on a sandbox where only analysis target program is running, we cannot detect malwares intruding the host where many normal programs are running. Therefore, this study proposes a method to detect malware variants in the host through logs rather than the sandbox. The proposed method extracts common behaviors from variants group and finds characteristic behaviors optimized for querying. Through experimentation on 1,584,363 logs, generated by executing 6,430 malware samples, we prove that there exist the common behaviors that variants share and we demonstrate that these behaviors can be used to detect variants.

• Genomics & Informatics
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• v.21 no.2
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• pp.26.1-26.9
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• 2023

Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.39-45
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• 2023

As advanced sequencing technologies continue to uncover an increasing number of variants in genes associated with human genetic diseases, there is a growing demand for systematic approaches to assess the impact of these variants on human development, health, and disease. While in silico analyses have provided valuable insights, it is essential to complement these findings with model organism studies to determine the functional consequences of genetic variants in vivo. Drosophila melanogaster is an excellent genetic model for such functional studies due to its efficient genetic technologies, high gene conservation with humans, accessibility to mutant fly resources, short life cycles, and cost-effectiveness. The traditional GAL4-UAS system, allowing precise control of gene expression through binary regulation, is frequently employed to assess the effects of monoallelic variants. Recombinase medicated cassette exchange or CRISPR-Cas9-mediated GAL4 insertion within coding introns or substitution of gene body with Kozak-Gal4 result in the loss-of-function of the target gene. This GAL4 insertion strategy also enables the expression of reference complementary DNA (cDNA) or cDNA carrying genetic variants under the control of endogenous regulatory cis elements. Furthermore, the CRISPR-Cas9-directed tissue-specific knockout and cDNA rescue system provides the flexibility to investigate candidate variants in a tissue-specific and/or developmental-timing dependent manner. In this review, we will delve into the diverse genetic techniques available in Drosophila and their applications in diagnosing and studying numerous undiagnosed diseases over the past decade.