• 제목/요약/키워드: reference genome

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인도네시아와 태국의 Bandicota indica 폐장조직에서 분리된 한타바이러스의 분자생물학적 특징 (Molecular Characterization of Hantavirus Isolates from Bandicota indica Captured in Indonesia and Thailand)

  • 주용규;;송대용;우영대;;;이호왕
    • 대한바이러스학회지
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    • 제30권3호
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    • pp.203-210
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    • 2000
  • Hantaviruses are etiologic agents of hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome (HPS) in the world. Various hantaviruses were isolated from HFRS patients and several different rodent species in the world. Four hantavirus isolates from Indonesia and three isolates from Thailand among 89 Bandicotas captured in Yogyakarta, east region of Sumatra island, Indonesia and at Chiang Mai in Thailand during 1996 were made through several passages in Vero E6 cells. Viral genome M segment from two Indonesian isolates and three Thailand isolates were amplified using hantavirus generic primers of the M segment and cloned into pCRII vector. The genetic differences were analyzed by comparison of partial sequence of the M segment and antigenic differences were made by IFA. Nucleotide sequence homology of two isolates BC 8, BC 34 from Indonesia and two isolates thai 1322, thai 1330 to Seoul virus was 99% and 96%, respectively, but Thai 1164 was 80%Thai 1164 strain has shown 95% homology to Thai 749 virus. In conclusion it is indicated that two different serotype hantaviruses, Seoul and Thailand, are cocirculating among Bandicota in Thailand, in contrast Seoul serotype virus is circulating in Indonesia.

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개 회충 게놈 응용 사례에서 공개용 분석 툴을 사용한 드래프트 게놈 어셈블리 생성 (Workflow for Building a Draft Genome Assembly using Public-domain Tools: Toxocara canis as a Case Study)

  • 원정임;공진화;허선;윤지희
    • 정보과학회 컴퓨팅의 실제 논문지
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    • 제20권9호
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    • pp.513-518
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    • 2014
  • NGS 기술의 발달로 시퀀싱 비용이 급격히 하락됨에 따라 대규모 크기의 유전체 염기 서열해독을 소규모의 실험실에서 수행할 수 있게 되었다. 디노버 어셈블리는 표준 유전체가 없는 새로운 종을 시퀀싱하는 경우 리드들의 염기 서열 정보를 이용하여 재구성함으로써 원래의 전체 시퀀스를 복원하는 것이다. 최근 이와 관련된 많은 연구 결과가 보고되고 있으나, 충분한 분석 노하우와 명확한 가이드라인 등이 공개되어 있지 않기 때문에 이들 연구에서 제시하는 동일한 어셈블리 수행 과정 및 분석 툴들을 사용하더라도 만족할만한 수준의 어셈블리 결과를 얻지 못하는 경우가 발생한다. 본 연구에서는 이러한 문제점을 해결하기 위하여 NGS 기술과 디노버 어셈블리 기술을 이용하여 아직 밝혀지지 않은 생물체의 전체 DNA의 염기 서열을 밝히기 위한 일련의 과정들을 단계별로 소개하고, 각 단계에서 필요로 하는 공개용 분석 툴의 장단점을 분석하여 제시한다. 이러한 과정별 단계를 구체적으로 설명하기 위하여 본 연구에서는 350Mbp 크기의 개 회충 게놈을 응용 사례로 사용한다. 또한 디노버 어셈블리 과정을 통해 새롭게 어셈블리된 시퀀스와 다른 유사 종과의 상동성 분석을 수행하여 어셈블리된 시퀀스에서의 유전자 영역 추출과 추출된 유전자의 기능을 예측한다.

Gramene database: A resource for comparative plant genomics, pathways and phylogenomics analyses

  • Tello-Ruiz, Marcela K.;Stein, Joshua;Wei, Sharon;Preece, Justin;Naithani, Sushma;Olson, Andrew;Jiao, Yinping;Gupta, Parul;Kumari, Sunita;Chougule, Kapeel;Elser, Justin;Wang, Bo;Thomason, James;Zhang, Lifang;D'Eustachio, Peter;Petryszak, Robert;Kersey, Paul;Lee, PanYoung Koung;Jaiswal, kaj;Ware, Doreen
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.135-135
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    • 2017
  • The Gramene database (http://www.gramene.org) is a powerful online resource for agricultural researchers, plant breeders and educators that provides easy access to reference data, visualizations and analytical tools for conducting cross-species comparisons. Learn the benefits of using Gramene to enrich your lectures, accelerate your research goals, and respond to your organismal community needs. Gramene's genomes portal hosts browsers for 44 complete reference genomes, including crops and model organisms, each displaying functional annotations, gene-trees with orthologous and paralogous gene classification, and whole-genome alignments. SNP and structural diversity data, available for 11 species, are displayed in the context of gene annotation, protein domains and functional consequences on transcript structure (e.g., missense variant). Browsers from multiple species can be viewed simultaneously with links to community-driven organismal databases. Thus, while hosting the underlying data for comparative studies, the portal also provides unified access to diverse plant community resources, and the ability for communities to upload and display private data sets in multiple standard formats. Our BioMart data mining interface enable complex queries and bulk download of sequence, annotation, homology and variation data. Gramene's pathway portal, the Plant Reactome, hosts over 240 pathways curated in rice and inferred in 66 additional plant species by orthology projection. Users may compare pathways across species, query and visualize curated expression data from EMBL-EBI's Expression Atlas in the context of pathways, analyze genome-scale expression data, and conduct pathway enrichment analysis. Our integrated search database and modern user interface leverage these diverse annotations to facilitate finding genes through selecting auto-suggested filters with interactive views of the results.

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A Simple, Single Triplex PCR of IS6110, IS1081, and 23S Ribosomal DNA Targets, Developed for Rapid Detection and Discrimination of Mycobacterium from Clinical Samples

  • Nghiem, Minh Ngoc;Nguyen, Bac Van;Nguyen, Son Thai;Vo, Thuy Thi Bich;Nong, Hai Van
    • Journal of Microbiology and Biotechnology
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    • 제25권5호
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    • pp.745-752
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    • 2015
  • Tuberculosis (TB) is the most common mycobacterial infection in developing countries, requiring a rapid, accurate, and well-differentiated detection/diagnosis. For the rapid detection and discrimination of Mycobacterium tuberculosis complex (MTC) from non-tuberculous mycobacteria (NTM), a novel, simple, and primer-combined single-step multiplex PCR using three primer pairs (6110F-6110R, 1081F-1081R, and 23SF-23SR; annealing on each of IS6110, IS1081, and 23S rDNA targets), hereafter referred to as a triplex PCR, has been developed and evaluated. The expected product for IS6110 is 416 bp, for IS1081 is 300 bp, and for 23S rDNA is 206 bp by single PCR, which was used to verify the specificity of primers and the identity of MTC using DNA extracted from the M. tuberculosis H37Rv reference strain (ATCC, USA) and other mycobacteria other than tuberculosis (MOTT) templates. The triplex PCR assay showed 100% specificity and 96% sensitivity; the limit of detection for mycobacteria was ~100 fg; and it failed to amplify any target from DNA of MOTT (50 samples tested). Of 307 blinded clinical samples, overall 205 positive M. tuberculosis samples were detected by single PCR, 142 by conventional culture, and 90 by AFB smear methods. Remarkably, the triplex PCR could subsequently detect 55 positive M. tuberculosis from 165 culture-negative and 115 from 217 AFB smear-negative samples. The triplex PCR, targeting three regions in the M. tuberculosis genome, has proved to be an efficient tool for increasing positive detection/discrimination of this bacterium from clinical samples.

Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data

  • Lee, Yuna;Park, Kiejung;Koh, Insong
    • Genomics & Informatics
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    • 제17권4호
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    • pp.40.1-40.9
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    • 2019
  • While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate. For the last 10 years, the availability of long read data of human genomes from PacBio or Nanopore platforms has increased, which makes it easier to detect long insertions/deletions. However, because long read data have a critical disadvantage due to their relatively high cost, many next generation sequencing data are produced mainly by short read sequencing machines. Here, we constructed programs to detect so-called unmapped regions (UMRs, where no reads are mapped on the reference genome), scanned 40 Korean genomes to select UMR long deletion candidates, and compared the candidates with the long deletion break points within the genomes available from the 1000 Genomes Project (1KGP). An average of about 36,000 UMRs were found in the 40 Korean genomes tested, 284 UMRs were common across the 40 genomes, and a total of 37,943 UMRs were found. Compared with the 74,045 break points provided by the 1KGP, 30,698 UMRs overlapped. As the number of compared samples increased from 1 to 40, the number of UMRs that overlapped with the break points also increased. This eventually reached a peak of 80.9% of the total UMRs found in this study. As the total number of overlapped UMRs could probably grow to encompass 74,045 break points with the inclusion of more Korean genomes, this approach could be practically useful for studies on long deletions utilizing short read data.

Genetic Characteristics of 207 Microsatellite Markers in the Korean Population and in other Asian Populations

  • Choi, Su-Jin;Song, Hye-Kyung;Jeong, Jae-Hwan;Jeon, In-Ho;Yoon, Ho-Sung;Chung, Ki Wha;Won, Yong-Jin;Choi, Je-Yong;Kim, Un-Kyung
    • Molecules and Cells
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    • 제25권2호
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    • pp.301-304
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    • 2008
  • Microsatellites, short tandem repeats, are useful markers for genetic analysis because of their high frequency of occurrence over the genome, high information content due to variable repeat lengths, and ease of typing. To establish a panel of microsatellite markers useful for genetic studies of the Korean population, the allele frequencies and heterozygosities of 207 microsatellite markers in 119 unrelated Korean, Indian and Pakistani individuals were compared. The average heterozygosity of the Korean population was 0.71, similar to that of the Indian and Pakistani populations. More than 80% of the markers showed heterozygosity of over 0.6 and were valuable as genetic markers for genome-wide screening for disease susceptibility loci in these populations. To identify the allelic distributions of the multilocus genetic data from these microsatellite markers, the population structures were assessed by clustering. These markers supported, with the most probability, three clustering groups corresponding to the three geographical populations. When we assumed only two hypothetical clusters (K), the Korean population was separate from the others, suggesting a relatively deep divergence of the Korean population. The present 207 microsatellite markers appear to reflect the historical and geographical origins of the different populations as well as displaying a similar degree of variation to that seen in previously published genetic data. Thus, these markers will be useful as a reference for human genetic studies on Asians.

Spike protein D614G and RdRp P323L: the SARS-CoV-2 mutations associated with severity of COVID-19

  • Biswas, Subrata K.;Mudi, Sonchita R.
    • Genomics & Informatics
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    • 제18권4호
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    • pp.44.1-44.7
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    • 2020
  • The severity of coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), greatly varies from patient to patient. In the present study, we explored and compared mutation profiles of SARS-CoV-2 isolated from mildly affected and severely affected COVID-19 patients in order to explore any relationship between mutation profile and disease severity. Genomic sequences of SARS-CoV-2 were downloaded from Global Initiative on Sharing Avian Influenza Data (GISAID) database. With the help of Genome Detective Coronavirus Typing Tool, genomic sequences were aligned with the Wuhan seafood market pneumonia virus reference sequence and all the mutations were identified. Distribution of mutant variants was then compared between mildly and severely affected groups. Among the numerous mutations detected, 14408C>T and 23403A>G mutations resulting in RNA-dependent RNA polymerase (RdRp) P323L and spike protein D614G mutations, respectively, were found predominantly in severely affected group (>82%) compared with mildly affected group (<46%, p < 0.001). The 241C>T mutation in the non-coding region of the genome was also found predominantly in severely affected group (p < 0.001). The 3037C>T, a silent mutation, also appeared in relatively high frequency in severely affected group compared with mildly affected group, but the difference was not statistically significant (p = 0.06). We concluded that spike protein D614G and RdRp P323L mutations in SARS-CoV-2 are associated with severity of COVID-19. Further studies will be required to explore whether these mutations have any impact on the severity of disease.

팽이버섯(Flammulina velutipes)의 Genome-wide SNP (Single Nucleotide Polymorphism)에 의한 계통 분석 (Genome-wide Single Nucleotide Polymorphism-based Assay for Phylogenetic Relationship of the Flammulina velutipes)

  • 우성이;김은선;한재구;장갑열;신평균;오연이;오민지;조성환;이정희;김경수;공원식
    • 한국균학회지
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    • 제43권4호
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    • pp.231-238
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    • 2015
  • 팽이버섯(Flammulina velutipes) 25품종의 유전체 재분석 데이터를 표준유전체(KACC42781)와 비교하여 genomewide single nucleotide polymorphism (SNP)를 선발하였다. 균주에 따른 mapping율의 차이는 균주간 변이를 반영하였으며, genome-wide SNP분포는 homozygous SNP, heterozygous SNP로 구분되었으며 모두 균주에 따른 변이가 크게 나타났다. 수집균주들 사이의 유연관계를 살펴보기 위해, 계통수를 그려본 결과, Group I은 F. velutipes var. 계통인 ASI 4062, 4148, 4195이 묶여지고, Group II는 ASI 4188 F. elastica, ASI 4190 F. fennae, ASI 4194 F. rossica의 다른 종이 별도의 그룹을 형성하였다. 그 외 F. velutipes 19개 계통은 같은 그룹으로 나타났으며 그 유전적 자리를 잘 반영하였다. 한편 백색 group과 갈색 group을 유연관계로 분석하고자 시도하였으나 색깔에 따른 group은 이루어지지 않았다. 한국 백색 품종인 ASI 4210, 4166, 4178과 일본 백색 품종인 ASI 4209, 4167을 분석한 결과 phylogenetic tree상에서 한국 백색 품종과 일본 백색 품종간의 유전적 상동성이 매우 높음을 확인할 수 있었다.

The Philippines Coconut Genomics Initiatives: Updates and Opportunities for Capacity Building and Genomics Research Collaboration

  • Hayde Flandez-Galvez;Darlon V. Lantican;Anand Noel C. Manohar;Maria Luz J. Sison;Roanne R. Gardoce;Barbara L. Caoili;Alma O. Canama-Salinas;Melvin P. Dancel;Romnick A. Latina;Cris Q. Cortaga;Don Serville R. Reynoso;Michelle S. Guerrero;Susan M. Rivera;Ernesto E. Emmanuel;Cristeta Cueto;Consorcia E. Reano;Ramon L. Rivera;Don Emanuel M. Cardona;Edward Cedrick J. Fernandez ;Robert Patrick M. Cabangbang;Maria Salve C. Vasquez;Jomari C. Domingo;Reina Esther S. Caro;Alissa Carol M. Ibarra;Frenzee Kroeizha L. Pammit;Jen Daine L. Nocum;Angelica Kate G. Gumpal;Jesmar Cagayan;Ronilo M. Bajaro;Joseph P. Lagman;Cynthia R. Gulay;Noe Fernandez-Pozo;Susan R. Strickler;Lukas A. Mueller
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.30-30
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    • 2022
  • Philippines is the second world supplier of coconut by-products. As its first major genomics project, the Philippine Genome Center program for Agriculture (PGC-Agriculture) took the challenge to sequence and assemble the whole coconut genome. The project aims to provide advance genetics tools for our collaborating coconut researchers while taking the opportunity to initiate local capacity. Combination of different NGS platforms was explored and the Philippine 'Catigan Green Dwarf' (CATD) variety was selected with the breeders to be the crop's reference genome. A high quality genome assembly of CATD was generated and used to characterize important genes of coconut towards the development of resilient and outstanding varieties especially for added high-value traits. The talk will present the significant results of the project as published in various papers including the first report of whole genome sequence of a dwarf coconut variety. Updates will include the challenges hurdled and specific applications such as gene mining for host insect resistance and screening for least damaged coconuts (thus potentially insect resistant varieties). Genome-wide DNA markers as published and genes related to coconut oil qualitative/quantitative traits will also be presented, including initial molecular/biochemical studies that support nutritional and medicinal claims. A web-based genome database is currently built for ease access and wider utility of these genomics tools. Indeed, a major milestone accomplished by the coconut genomics research team, which was facilitated with the all-out government support and strong collaboration among multidisciplinary experts and partnership with advance research institutes.

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A Visualization Tool for Computational Analysis of DNA Methylation Level Using Bisulfite Sequencing Data

  • Tae, Hong-Seok
    • Genomics & Informatics
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    • 제9권3호
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    • pp.136-137
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    • 2011
  • Methylation of cytosine is a post-synthesis modification that does not affect the primary DNA sequence but greatly influences gene expression level and phenotypes of an organism. As high-throughput sequencing of bisulfite-treated DNA is the most efficient method to identify methylated sites, several tools to map sequencing reads on a reference are available. But tools to visualize and to interpret the methylation level of methylation sites are currently insufficient. Herein, we present a novel tool to visualize the methylation level of CpG sites.