• Title/Summary/Keyword: Genomic analysis

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Genetic Distance Methods for the Identification of Cervus Species

  • Seo Jung-Chul;Kim Min-Jung;Lee Chan;Lee Jeong-Soo;Choi Kang-Duk;Leem Kang-Hyun
    • The Journal of Korean Medicine
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    • v.27 no.2 s.66
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    • pp.225-231
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    • 2006
  • Objectives : This study was performed to determine if unknown species of antler samples could be identified by genetic distance methods. Methods : The DNAs of 4 antler samples were extracted, amplified by PCR, and sequenced. The DNAs of antlers were identified by genetic distance. Genetic distance method was made using MEGA software (Molecular Evolutionary Genetics Analysis, 3.1). Results : By genetic distance methods, all 4 antler samples were closest to Cervus elaphus nelsoni among Cervus species. Conclusion : These results suggest that genetic distance methods might be used as a tool for the identification of Cervus species.

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Detection of Laminariaceae Species Based on PCR by Family-specific ITS Primers

  • Choi, Chang-Geun;Kim, Jong-Myoung
    • Fisheries and Aquatic Sciences
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    • v.15 no.2
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    • pp.157-162
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    • 2012
  • To analyze nucleotide sequence encoding internal transcribed spacer (ITS) regions specific to the Laminariaceae family, genomic DNA was isolated from six brown algae species distributed along the east coast of Korea. These included three species from the Laminariaceae family (Agarum clathratum Dumortier, Costaria costata [C. Agardh] Saunders, and Saccharina japonica Areschoug) and two species from the Alariaceae family (Undaria pinnatifida [Harvey] Suringer and Ecklonia cava Kjellman), both in the order Laminariales, and one species from the family Sargassaceae in the order Fucales (Sargassum serratifolium). Based on a sequence analysis of ITS-1 and ITS-2 for A. clathratum, C. costata, and E. cava, oligonucleotides were designed from the regions that showed sequence conservation in Laminariaceae. Following polymerase chain reaction using three sets of primers, amplification of ITS-1 and ITS-2 was detected in reactions using genomic DNA isolated from the species belonging to Laminariaceae, but not from the species belonging to the other families. The results indicate that this method can be used for the detection and identification of Laminariaceae species.

Coffin-Lowry Syndrome - The First Genetically Confirmed Case in Korea Diagnosed by Whole Exome Sequencing

  • Yoon, Ju Young;Cheon, Chong Kun
    • Journal of Interdisciplinary Genomics
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    • v.2 no.1
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    • pp.10-12
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    • 2020
  • Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.

Currents in Integrative Biochip Informatics

  • Kim, Ju-Han
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2001.10a
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    • pp.1-9
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    • 2001
  • scale genomic and postgenomic data means that many of the challenges in biomedical research are now challenges in computational sciences and information technology. The informatics revolutions both in clinical informatics and bioinformatics will change the current paradigm of biomedical sciences and practice of clinical medicine, including diagnostics, therapeutics, and prognostics. Postgenome informatics, powered by high throughput technologies and genomic-scale databases, is likely to transform our biomedical understanding forever much the same way that biochemistry did a generation ago. In this talk, 1 will describe how these technologies will in pact biomedical research and clinical care, emphasizing recent advances in biochip-based functional genomics. Basic data preprocessing with normalization and filtering, primary pattern analysis, and machine teaming algorithms will be presented. Issues of integrated biochip informatics technologies including multivariate data projection, gene-metabolic pathway mapping, automated biomolecular annotation, text mining of factual and literature databases, and integrated management of biomolecular databases will be discussed. Each step will be given with real examples from ongoing research activities in the context of clinical relevance. Issues of linking molecular genotype and clinical phenotype information will be discussed.

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Association Between Metabolic Syndrome and Adiponectin according to Sasang Constitution (사상체질에 따른 대사증후군과 Adiponectin의 상관성)

  • Yu, Jun-Sang;Koh, Sang-Baek;Park, Jong-Ku
    • Journal of Sasang Constitutional Medicine
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    • v.21 no.3
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    • pp.122-130
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    • 2009
  • 1. Objectives: The objective of this study is to investigate the relationship between adiponectin and metabolic syndrome according to Sasang Constitution. 2. Methods: Six hundred sixty six participants were included in this cohort study. Sex, age, BMI(Body Mass Index), smoking, drinking, adiponectin level and Metabolic syndrome components were considerd. Sasang constitutional diagnosis was carried out by a sasang constitutional specialist using photos, questionnaires and PSSC(Phonetic System for Sasang Classification). 3. Results: In binary logistic analysis after adjustment of age, sex, BMI, smoking, drinking, adiponectin level and sasang constitution were related with Metabolic syndrome. 4. Conclusions: We suggest that adiponectin and sasang constitution are the important biomarker in Metabolic syndorme.

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Isolation and Phylogeny of SINE-R Retroposons Derived from Human Endogenous Retrovirus HERV-K Family in Schizophrenia

  • Kim, Heui-Soo;Crow, Timothy J.
    • Animal cells and systems
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    • v.6 no.1
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    • pp.81-84
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    • 2002
  • SINE-R retroposons have been derived from human endogenous retrovirus HERV-K family and found to be hominoid specific. Both SINE-R retroposons and HERV_K family are potentially capable of affecting the expression of closely located genes. Using the genomic DNA from patients with schizophrenia, we identified 26 SINE-R retroposons and analyzed them with the sequences derived from the hominoid primates. The SINE-R retroposons from schizophrenia showed 89.7-96.6% sequence similarities with the sequence of the schizo-cDNA clone that derived from postmortem tissue from the frontal cortex of an individual suffering from schizophrenial. Phylogenetic analysis using the neighbor-joining method revealed that the new SINE-R retroposons in schizophrenia have proliferated independently during hominid evolution. Such retroposons have great relevance to genomic change connected to human diseases. The data suggest that new SINE-R retroposons identified in schizophrenia deserve further investigation as potential leads on the understanding of neuropsychiatric diseases.

Application of genotyping-by-sequencing (GBS) in plant genome using bioinformatics pipeline

  • Lee, Yun Gyeong;Kang, Chon-Sik;Kim, Changsoo
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.58-58
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    • 2017
  • The advent of next generation sequencing technology has elicited plenty of sequencing data available in agriculturally relevant plant species. For most crop species, it is too expensive to obtain the whole genome sequence data with sufficient coverage. Thus, many approaches have been developed to bring down the cost of NGS. Genotyping-by-sequencing (GBS) is a cost-effective genotyping method for complex genetic populations. GBS can be used for the analysis of genomic selection (GS), genome-wide association study (GWAS) and constructing haplotype and genetic linkage maps in a variety of plant species. For efficiently dealing with plant GBS data, the TASSEL-GBS pipeline is one of the most popular choices for many researchers. TASSEL-GBS is JAVA based a software package to obtain genotyping data from raw GBS sequences. Here, we describe application of GBS and bioinformatics pipeline of TASSEL-GBS for analyzing plant genetics data.

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Rice Transformation by DNA Imbibition and Construction of Plant Vector (DNA imbibition을 이용한 벼의 형질전환과 vector 개발)

  • 유준희;남홍길정구흥
    • KSBB Journal
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    • v.8 no.2
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    • pp.104-109
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    • 1993
  • A vector for plant transformation which had two reporter genes(Gus and Hpt genes) in a single plasmid was constructed. After rice embryos imbibed DNA solution, DNA uptake and gene expression in rice were monitored. Main expression sites of the Gus gene were meristem of root and coleoptiles. There was no difference in Hpt gene expression between a single Hpt vector and the constructed vector in viability of rice in the hygromycin medium after DNA imbibition, The genomic DNA and total RNA extracted from rice transformant survived in the hygromycin medium were subjected to PCR and RT PCR analysis, respectively. As a result, we found the existence of the Hpt gene and its expression in rice.

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The molecular pathophysiology of vascular anomalies: Genomic research

  • Kim, Jong Seong;Hwang, Su-Kyeong;Chung, Ho Yun
    • Archives of Plastic Surgery
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    • v.47 no.3
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    • pp.203-208
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    • 2020
  • Vascular anomalies are congenital localized abnormalities that result from improper development and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the phenotype, and the current treatment options are often unsatisfactory. Most vascular anomalies are sporadic, but patterns of inheritance have been noted in some cases, making genetic analysis relevant. Developments in the field of genomics, including next-generation sequencing, have provided novel insights into the genetic and molecular pathophysiological mechanisms underlying vascular anomalies. These insights may pave the way for new approaches to molecular diagnosis and potential disease-specific therapies. This article provides an introduction to genetic testing for vascular anomalies and presents a brief summary of the etiology and genetics of vascular anomalies.

dsRNA Analysis and Sequence of S12 to Rice dwarf virus Korean Isolate

  • Lee, Bong-Choon;Kwak, Do-Yeon;Hong, Yeon-Kyu;Cho, Hyun-Je;Park, Sung-Tae;Kim, Soon-Chul
    • The Plant Pathology Journal
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    • v.20 no.2
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    • pp.155-157
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    • 2004
  • We isolated Rice dwarf virus (RDV) from infected plants in rice fields (Korea, Japan, China, the Philippines and Nepal) and analyzed their genomic dsRNAs by polyacrylamide gel eletrophoresis. The genomic dsRNAs of the isolates showed distinct electrophoretic mobility profiles. The S12 coding to nonstructural protein of Korean isolate (RDV-Kr) was further analyzed by sequencing. The S12 of RDV-Kr was 1,066bp long and coded for a protein composed of 312 amino acids including three open reading frames of P12, P120Pa and P120Pb. The sequence identities were 96% and 98.6% with Japanese isolates (H, AN), 94.7% with Nepalese isolate (NEL), 94% with Chinese isolate (CK) and the Philippines isolate (P).