• Title/Summary/Keyword: NGS 분석

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The Role of Medical Technologists in Next-Generation Sequencing and Clinical Genetic Tests (임상유전자검사 및 차세대 염기서열분석을 위한 임상병리사의 역할)

  • Hyun-Seok JIN;Sangjung PARK;Mi-Sook AHN;Sangwook PARK
    • 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.

Toward The Fecal Microbiome Project (분변 미생물군집 프로젝트)

  • Unno, Tatsuya
    • Korean Journal of Microbiology
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    • v.49 no.4
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    • pp.415-418
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    • 2013
  • Since the development of the next generation sequencing (NGS) technology, 16S rRNA gene sequencing has become a major tool for microbial community analysis. Recently, human microbiome project (HMP) has been completed to identify microbes associated with human health and diseases. HMP achieved characterization of several diseases caused by bacteria, especially the ones in human gut. While human intestinal bacteria have been well characterized, little have been studied about other animal intestinal bacteria. In this study, we surveyed diversity of livestock animal fecal microbiota and discuss importance of studying fecal microbiota. Here, we report the initiation of the fecal microbiome project in South Korea.

회원사 소개 - 중소중견기업편 - 시크제네시스(SeqGenesis)

  • 한국식품연구원
    • Bulletin of Food Technology
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    • v.26 no.4
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    • pp.344-348
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    • 2013
  • 시크제네시스(SeqGenesis)는 2011년 7월 설립된 대전소재 생물정보분석 전문기업으로, 국가 연구기관에서 다수 미생물, 인간, 동물, 식물에 대한 오믹스 통합 데이터베이스 및 생물정보 분석 플랫폼 개발, 영양유전체 연구지원 시스템 구축, 분석알고리즘 개발 등 다양한 생물정보분석에 대한 경력을 가진 전문연구원으로 구성되어 있다. 현재 차세대시퀀싱(NGS)데이터 분석, 마이크로바이옴(microbiome) 분석, 고밀도 마이크로어레이 프로브 디자인 및 분석, 생물 정보 컨설팅, 오믹스 데이터베이스 구축 등 연구 지원 파트너로서 생물정보분석 서비스를 하고 있다.

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Genotype-Calling System for Somatic Mutation Discovery in Cancer Genome Sequence (암 유전자 배열에서 체세포 돌연변이 발견을 위한 유전자형 조사 시스템)

  • Park, Su-Young;Jung, Chai-Yeoung
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.17 no.12
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    • pp.3009-3015
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    • 2013
  • Next-generation sequencing (NGS) has enabled whole genome and transcriptome single nucleotide variant (SNV) discovery in cancer and method of the most fundamental being determining an individual's genotype from multiple aligned short read sequences at a position. Bayesian algorithm estimate parameter using posterior genotype probabilities and other method, EM algorithm, estimate parameter using maximum likelihood estimate method in observed data. Here, we propose a novel genotype-calling system and compare and analyze the effect of sample size(S = 50, 100 and 500) on posterior estimate of sequencing error rate, somatic mutation status and genotype probability. The result is that estimate applying Bayesian algorithm even for 50 of small sample size approached real parameter than estimate applying EM algorithm in small sample more accurately.

Applicability of Next-Generation Sequencing for Analysis of Stomach Contents in Fish (Next-Generation Sequencing을 활용한 어류 위 내용물 분석의 적용 가능성)

  • Chae-Jin Park;Seonbin Yun;Hyeon-Sik Lee;Seoyun Jang;Kang-Hui Kim;Donghyun Hong;Gea-Jae Joo
    • Korean Journal of Ecology and Environment
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    • v.56 no.1
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    • pp.104-125
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    • 2023
  • The predator-prey interaction in freshwater ecosystems is a crucial area in the ecological study field and one of example to find such interaction is to investigate stomach contents. However, traditional method through visual inspection often induce misidentification, as it depends critically on intactness of physically visible data. In this study, we utilized Next-Generations Sequencing (NGS) technology to test the applicability stomach content analysis and overcome such limitation. NGS was applied to analyze the stomach contents of the Hemibarbus labeo, Tachysurus fulvidraco, and Plecoglossus altivelis collected in the lower part of Nakdong River. As a result, T. fulvidraco had a higher number of Animalia operational taxonomic units (OTUs) intake rate than H. labeo. At the same time, P. altivelis had higher number of Plantae OTUs intake rate than T. fulvidraco and higher Protozoa OTUs intake rate than H. labeo respectively. Therefore, NGS technology application enable to overcome traditional method's limitation and discover hidden interspecific interaction which can further be used in appropriate habitat assessment.

NGSOne: Cloud-based NGS data analysis tool (NGSOne: 클라우드 기반의 유전체(NGS) 데이터 분석 툴)

  • Kwon, Chang-hyuk;Kim, Jason;Jang, Jeong-hwa;Ahn, Jae-gyoon
    • Journal of Platform Technology
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    • v.6 no.4
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    • pp.87-95
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    • 2018
  • With the decrease of sequencing price, many national projects that analyzes 0.1 to 1 million people are now in progress. However, large portion of budget of these large projects is dedicated for construction of the cluster system or purchase servers, due to the lack of programs or systems that can handle large amounts of data simultaneously. In this study, we developed NGSOne, a client program that is easy-to-use for even biologists, and performs SNP analysis using hundreds or more of Whole Genome and Whole Exome analysis without construction of their own server or cluster environment. DRAGEN, BWA / GATK, and Isaac / Strelka2, which are representative SNP analysis tools, were selected and DRAGEN showed the best performance in terms of execution time and number of errors. Also, NGSOne can be extended for various analysis tools as well as SNP analysis tools.

The Complete Chloroplast DNA Sequences of Viola selkirkii (뫼제비꽃(Viola selkirkii)의 엽록체 DNA 염기서열 분석)

  • Ah-Reum Go;Yun-Sun Lee;Kyung-Ah Kim;Kyeong-Sik Cheon;Ki-Oug Yoo
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2020.12a
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    • pp.55-55
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    • 2020
  • 뫼제비꽃(Viola selkirkii)의 엽록체 DNA 염기서열을 차세대염기서열분석법(NGS)을 이용하여 분석하였다. 재료는 강원도 화천군 일산과 제주도 한라산의 2개체를 사용하였다. 분석결과, 염기서열의 길이는 일산의 뫼제비꽃이 156,774 bp (GC content: 36.30%), 한라산의 뫼제비꽃이 157,451 bp(GC content: 36.30%)로 한라산 개체가 길게 분석되었다. 구간별로 LSC(Large single copy)지역은 한라산 개체(85,950 bp)가 일산 개체(85,930 bp)보다 20 bp 길었으며, SSC(Small single copy)지역은 한라산 개체(17,261 bp)보다 일산 개체가 17,982 bp로 길게 분석되었다. IR(Inverted repeat)지역은 한라산 개체가 27,120 bp로 일산 개체(26,431 bp)보다 길게 분석되었다. 이러한 염기서열 길이의 차이는 종내 개체 간 빈번하게 발생하는 현상으로 IGS와 intron 구간에서 확인 된 단순반복서열의 일부 누락과 IR지역 내의 수축과 확장에 의한 것으로 판단된다. 뫼제비꽃 2개체의 엽록체 게놈을 구성하는 유전자 수는 총 111개로 동일하였으며, protein coding gene 77개, tRNA(transfer RNA) gene 30개, 그리고 rRNA (ribosomal RNA) gene 4개로 구성되어 있었다. 이는 기 발표된 엽록체 DNA 전체 염기서열이 밝혀진 제비꽃속 (Viola) 종류들과 동일한 결과이다.

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Researches of pear tree (Pyrus spp.) genomics (배나무(Pyrus spp.) 유전체 연구 현황)

  • Oh, Youngjae;Shin, Hyunsuk;Kim, Keumsun;Han, Hyeondae;Kim, Yoon-Kyeong;Kim, Daeil
    • Journal of Plant Biotechnology
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    • v.42 no.4
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    • pp.290-297
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    • 2015
  • Based on the place of its origin, pear tree (Pyrus spp.) is largely divided into European pears (P. communis, cultivated mainly in Europe and the U.S.) and Asian pears (P. pyrifolia, P. bretschneideri, and P. ussuriensis, distributed and grown in East Asian countries including China, Japan, and Korea). Most pear trees have 17 chromosomes (diploidy, 2n=2x=34). Their genetic studies and precise cultivar breeding are highly restricted by conditions such as self-incompatibility controlled by S-locus and juvenility as one major character of fruit crops. Genetic studies on Pyrus have been promoted by the development of various molecular markers. These markers are being utilized actively in various genetic studies, including genetic relationship analysis, genetic mapping, and QTL analysis. In addition, research on pear genetic linkage maps has been extended to studies for the identification of QTL for target traits such as disease resistance and genetic loci of useful traits. NGS technology has radically reduced sequencing expenses based on massive parallel reactions to enable high-capacity and high-efficiency. NGS based genome analyses have been completed for Chinese pear 'Danshansuli' and European pear 'Bartlett'. In Korea, GWAS for agricultural valuable traits such as floral structure, ripening, and total soluble contents have been conducted through resequencing. GBS has been performed for 'Whangkeumbae', 'Cheongsilri', and 'Minibae'.

Comparative Transcriptome Analysis of Zerumbone-Treated Helicobacter pylori (Zerumbone 처리 헬리코박터 파이로리균의 전사체 분석 비교)

  • Woo, Hyun Jun;Yang, Ji Yeong;Kim, Sa-Hyun
    • Microbiology and Biotechnology Letters
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    • v.50 no.2
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    • pp.301-309
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    • 2022
  • Helicobacter pylori (H. pylori) establishes infection in the human gastric mucosa for a long time and causes severe gastric diseases such as peptic ulcer and gastric cancer. When H. pylori is exposed to the antibacterial agents or inhibitors, the expression of pathogenic associated genes could be altered. In this study, we analyzed the transcriptional changes of H. pylori genes induced by zerumbone treatment. RNA expression changes were analyzed using next-generation sequencing (NGS), and then reverse transcription-polymerase chain reaction (RT-PCR) was performed to verify the results. As a result of NGS analysis, a total of 23 out of 1,632 genes were differentially expressed by zerumbone treatment. RT-PCR confirmed that zerumbone treatment regulated the expression level of 14 genes. Among the genes associated with DNA replication, transcription, virulence factors and T4SS components, 10 genes (dnaE, dnaQ, rpoA, rpoD, secA, flgE, flhA, virB5, virB8 and virB9) were significantly down-regulated and 4 genes (flaA, flaB, virB4 and virD4) were up-regulated. The results of our current study imply that zerumbone might be a potential therapeutic agent for H. pylori infection by regulating factors related to various H. pylori pathogenicity.