• Title/Summary/Keyword: 시퀀싱

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MEGAS : MEtaGenomic data Analysis System (MEGAS : 메타지노믹 데이터 분석 시스템)

  • Park, Sol-Been;Kim, Dong-Wook;Baik, Doo-Kwon
    • Proceedings of the Korea Information Processing Society Conference
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    • 2013.05a
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    • pp.722-725
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    • 2013
  • 최근 시퀀싱 기술의 발전으로 생물 데이터는 폭발적으로 증가되고 있으며 이로 인하여 우리는 지놈 시대를 지나 특정 환경 내에 존재하는 생물체들의 총체적인 지놈을 다루는 메타지놈 시대에 살고 있다. 그러나 메타지노믹 데이터의 증가속도에 비해 이를 효율적으로 분석, 검토, 판별할 수 있는 파이프라인 형태의 프로그램은 전무한 실정이다. 또한, 기존 프로그램은 대부분의 관련연구자들이 다루기 힘든 리눅스 환경의 커맨드 라인 방식이며 대용량 데이터를 처리할 수 없는 제한과 처리 속도의 한계성을 가지고 있다. 이러한 문제점들을 해결하고자 윈도우 환경의 직관적인 그래픽 사용자 인터페이스로 유기적인 데이터 분석이 가능한 메타지노믹 데이터 분석 파이프라인을 설계하고 구현하였다.

Cancer driver gene using multi-omics data and biological network information (멀티 오믹스 데이터 및 생물학적 네트워크 정보를 이용한 드라이버 유전자 분류)

  • Jeong-Ho Park;Kyuri Jo
    • Proceedings of the Korea Information Processing Society Conference
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    • 2023.05a
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    • pp.490-492
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    • 2023
  • 시퀀싱(sequencing) 기술의 발달로 다양한 오믹스(omics) 데이터의 축적과 인공 지능 기술의 발달로 인하여 다양한 드라이버 유전자 분류기법이 제안되어왔다. 최근에는 암 데이터가 대용량으로 축적되며 기계 학습 기반의 다양한 기법들이 활발히 제안되었다. 특히 다양한 오믹스 데이터를 결합한 고차원 데이터에서 높은 정확도를 확보하기 위한 시도가 활발히 이루어지고 있다. 본 논문에서는 멀티 오믹스와 네트워크 관련 특징을 기반으로 암의 증식 및 발생에 중요한 역할을 하는 드라이버 유전자를 분류하는 딥러닝 모델을 제시한다. 또한 The Cancer Genome Atlas(TCGA) 데이터를 통해서 모델 학습 후 기존 통계 및 머신러닝 기반 기법과 비교하여 성능이 개선되었음을 확인하였다.

A CNV Detection Algorithm (CNV 영역 검색 알고리즘)

  • Sang-Kyoon Hong;Dong-Wan Hong;Jee-Hee Yoon
    • Proceedings of the Korea Information Processing Society Conference
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    • 2008.11a
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    • pp.356-359
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    • 2008
  • 최근 생물정보학 분야에서 인간 유전체에 존재하는 CNV(copy number variation)에 관한 연구가 주목 받고 있다. CNV 영역은 1kbp-3Mbp 사리의 서열이 반복되거나 결실되는 변이 영역으로 정의된다. 우리는 선행연구에서 기가 시퀀싱(giga sequencing)의 결과 산출되는 DNA 서열조각인 리드(read)를 레퍼런스 시퀀스에 서열 정렬하여 CNV 영역을 찾아내는 새로운 CNV 검색 방식을 제안하였다. 후속 연구로서 본 논문에서는 DNA 서열에 존재하는 repeat 영역 문제를 해결하기 위한 새로운 방안을 제안하고, 리드의 출현 빈도 정보를 분석하여 CNV 영역을 찾아내는 CNV 영역 검색 알고리즘을 보인다. 제안된 알고리즘 Gaussian 분포를 갖는 출현 빈도 정보로부터 통계적 유의성을 갖는 영역을 추출하여 CNV 영역후보로 하고, 다음 경제 과정을 거쳐 최종의 CNV 영역을 추출한다. 성능 평가를 위하여 프로토타임 시스템을 개발하였으며, 시뮬레이션 실험을 수행하였다. 실험 결과에 의하여 제안된 방식은 반복되거나 결실되는 형태의 CNV 영역을 효율적으로 검출하며, 또한 다양한 크기의 CNV 영역을 효율적으로 검출할 수 있음을 입증한다.

A Study on the Modification of SCORM International Standard to Design Adaptive Personalization E-Learning System (적응적 이러닝 시스템의 효율적인 설계를 위한 SCROM 국제표준 수정에 관한 연구)

  • Mi-Joung Lee;Ki-Seok Kim
    • Proceedings of the Korea Information Processing Society Conference
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    • 2008.11a
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    • pp.1170-1172
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    • 2008
  • 본 논문에서는 적응적 이러닝 시스템을 구현하기에 다소 미흡하였던 SCORM 2004 국제표준을 수정한 새로운 표준을 제안한다. 학습자가 선택하는 과목과 학습객체에 대한 데이터 모델을 분리하였고, 이것을 이용한 API 메소드를 추가하였다. 또한 학습객체정보, 그것들의 관계와 과목을 구성하는 학습객체들의 경로에 대한 정보를 설명하는 섹션을 Manifest 파일에 추가하였다. 기존 SCORM 2004 를 수정한 새로운 표준을 따르면 학습자가 과목을 선택하는 시점과 학습 객체가 선택되는 시점을 분리할 수 있고, 기존 학습객체 단위보다 상위 단위의 학습객체 시퀀싱이 가능하게 되어 효율적인 적응적 이러닝 시스템을 구현할 수 있게 된다.

Automatic Speech Style Recognition Through Sentence Sequencing for Speaker Recognition in Bilateral Dialogue Situations (양자 간 대화 상황에서의 화자인식을 위한 문장 시퀀싱 방법을 통한 자동 말투 인식)

  • Kang, Garam;Kwon, Ohbyung
    • Journal of Intelligence and Information Systems
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    • v.27 no.2
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    • pp.17-32
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    • 2021
  • Speaker recognition is generally divided into speaker identification and speaker verification. Speaker recognition plays an important function in the automatic voice system, and the importance of speaker recognition technology is becoming more prominent as the recent development of portable devices, voice technology, and audio content fields continue to expand. Previous speaker recognition studies have been conducted with the goal of automatically determining who the speaker is based on voice files and improving accuracy. Speech is an important sociolinguistic subject, and it contains very useful information that reveals the speaker's attitude, conversation intention, and personality, and this can be an important clue to speaker recognition. The final ending used in the speaker's speech determines the type of sentence or has functions and information such as the speaker's intention, psychological attitude, or relationship to the listener. The use of the terminating ending has various probabilities depending on the characteristics of the speaker, so the type and distribution of the terminating ending of a specific unidentified speaker will be helpful in recognizing the speaker. However, there have been few studies that considered speech in the existing text-based speaker recognition, and if speech information is added to the speech signal-based speaker recognition technique, the accuracy of speaker recognition can be further improved. Hence, the purpose of this paper is to propose a novel method using speech style expressed as a sentence-final ending to improve the accuracy of Korean speaker recognition. To this end, a method called sentence sequencing that generates vector values by using the type and frequency of the sentence-final ending appearing in the utterance of a specific person is proposed. To evaluate the performance of the proposed method, learning and performance evaluation were conducted with a actual drama script. The method proposed in this study can be used as a means to improve the performance of Korean speech recognition service.

A Study on Biogas Production from Low Rank Coal in a Column Experiment (저품위 석탄을 충전한 칼럼실험에서의 바이오가스 생산에 관한 연구)

  • Yoon, Seok-Pyo;Lim, Hak-Sang;Yun, Yeo-Myeong
    • Journal of the Korea Organic Resources Recycling Association
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    • v.25 no.1
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    • pp.57-65
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    • 2017
  • In a column experiment with low rank coal, rice straw was additionally supplied to induce methane gas generation by microorganisms in the state of supplying microorganisms and nutrients, and long-term biogas production characteristics were observed. When the weight ratio of the rice straw to coal was 0.04 or less, there was no significant gas generation. At 0.08, the biogas was generated for about 90 days. However, the methane gas generation was only 5% compared with the vial test result at optimum condition. Therefore, in order to produce biogas in the coal deposit in situ, a reactor that operates at COD concentration of 2000 mg/L or more at a ratio of 1:3 or more of rice straw to coal should be installed on the ground or under the ground. Liquid from the column filled with coal and rice straw and a liquid from vial containing rice straw were analyzed by microbial community analysis using pyrosequencing method, and compared the dominant microbial species among the two samples. In terms of the uniformity and diversity of the bacteria, the coal-filled column showed various species distribution, which has shown to be a disadvantageous microbial distribution to methane production.

Effect of an Organochlorine Insecticide, Endosulfan on Soil Bacteria Community as Evaluated by 16S rRNA Gene Analysis (유기염소계 살충제 엔도설판이 토양세균 군집에 미치는 영향 평가)

  • Ahn, Jae-Hyung;Park, InCheol;Kim, Wan-Gyu;Han, Byeong-Hak;You, Jaehong
    • The Korean Journal of Pesticide Science
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    • v.21 no.1
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    • pp.1-8
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    • 2017
  • Although a global ban on the use of endosulfan, an organochloline insecticide, has taken effect in mid-2012, it has been still used in several countries, including India and China, and detected in diverse environments in the world due to its relative persistence and semi-volatility. In this study, the effect of endosulfan on soil bacterial community was investigated using 16S rRNA gene pyrosequencing method. When endosulfan was applied to an upland soil at a rate of 100 mg/kg soil (ES soil), the number of operational taxonomic units (OTU) and diversity indices for bacteria initially decreased and gradually recovered to the level of the non-treated soil (NT soil) during an eight-week incubation period. At bacterial phylum level, relative abundances of Proteobacteria and Verrucomicrobia were higher while those of Chloroflexi and Spirochaetes were lower in the ES soil than in the NT soil, suggesting that an endosulfan application affects the bacterial community structure in soil. In the ES soil, the relative abundances of the OTUs affiliated to the genera Sphingomonas and Burkholderia increased in the initial period of incubation while those affiliated to the genera Pseudonocardia and Opitutus increased in the late period of incubation. Because the first three genera contain bacterial strains reported to degrade endosulfan, they are expected to be involved in the degradation of endosulfan, probably one after another.

A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia (임상적으로 진단된 다발성 골단이형성증 1례)

  • Kim, Sun-Ja;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Shim, Jongsup;Kim, Ok-Hwa;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.49-54
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    • 2015
  • Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

Epigenetic Study of XIST Gene from Female and Male Cells by Pyrosequencing (남성과 여성에서 XIST 유전자의 후성학적 비교 연구)

  • Kim, Hwan-Hee;Yun, Yeo-Jin;Song, Min-Ae;Lee, Su-Man
    • Clinical and Experimental Reproductive Medicine
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    • v.37 no.1
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    • pp.25-31
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    • 2010
  • Objective: X inactivation is the silencing one of the two X chromosomes in female mammals for gene dosage on the X-chromosome between female and male. X inactivation is controlled by X inactive-specific transcript (XIST) gene, untranslated RNA. XIST is expressed only from the inactive X (Xi), not expressed from the active X (Xa). The Xist promoter is methylated on the silent Xist allele on the Xa in somatic cells, and less methylated on the Xist-expressing Xi. We investigated the difference of XIST methylation pattern of the promoter and 5'-region of XIST from male (XY) and female (XX) subjects. Methods: The direct quantification of XIST methylation is required for clinical application of normal XX and XY blood. Methylation percentage of eight CpG sites (-1696, -1679, -1475, -1473, -1469, +947, +956, +971) of XIST gene were diagnosed by pyrosequencing. Results: We directly quantitated the methylation percentage of the promoter and 5'-end of XIST by pyrosequencing. The average methylation percentages at CpG6-8 sites (+947, +956, +971) were 45.2% at CpG6, 49.9% at CpG7, and 44.2% at CpG8 from normal female and normal male were 90.6%, 96.7%, 87.8%, respectively. Nether CpG 1-5sites (-1696, -1679, -1475, -1473, -1469) had any effect on XX and XY. Conclusion: This method is sensitive for quantifying the small percentage change in the methylation status of XIST, and may be used for diagnosis.

Effect of Homemade Liquid Fertilizers on Chemical Property and Microbial Activity of Soil and Cucumber Growth (자가제조 액비처리가 토양 화학성과 미생물상 및 오이의 생장에 미치는 영향)

  • Jung, Ji-Sik;Jung, Seok-Kyu;Choi, Hyun-Sug
    • Journal of the Korea Organic Resources Recycling Association
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    • v.27 no.3
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    • pp.15-25
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    • 2019
  • The study was conducted to compare the chemical properties and microbial activity of soil and the crop productivity by applying homemade liquid fertilizers (LF) used in leading cucumber farms as well as to evaluate the eco-friendly LFs to substitute for a chemical fertilizer. Three homemade LFs, EM, starfish, and native microbes, and a chemical LF were regularly fertigated per three days during the growing season. Chemical LF contained the highest pH, EC (electrical conductivity), and concentrations of T-N, $P_2O_5$, K, Ca, and Mg, while the lowest EC level was observed for EM LF. Soil EC was the highest to the 3.0 dS/m for chemical LF-plots, with lowering soil pH, OM (organic matter), and Mg concentration. Soil chemical properties mostly increased in native microbes LF-plots. However, soil microbial properties were not significantly different among the LF treatment plots. OTU (operational taxonomic units), richness estimator, and diversity index of bacteria and fungi increased in the chemical LF and EM LF based on the pyrosequencing analysis. SPAD and PS II values on the treated-cucumber leaves were seasonally decreased from 32 to 60 days after transplanting, with the rapid decline observed at 45 days after transplanting. Number of leaves and crop height increased in the treatments with EM and native microbes LF. LF treated-cucumber crops were not significantly different for total fresh weight and fruit yield.