• 제목/요약/키워드: Whole-genome sequencing

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Prospect of plant molecular cytogenetics in the 21st century

  • Mukai, Yasuhiko
    • 한국생명과학회:학술대회논문집
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    • 한국생명과학회 2003년도 제40회 국제학술심포지움
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    • pp.14-27
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    • 2003
  • The genomes of Arabidopsis and rice have been fully sequenced. Genomic sequencing provides global information about genome structure and organization. A comprehensive research account of our recent studies conducted on genome painting, comparative genomics and genome fusion is provided in order to project the prospects of plant cytogenetic research in post-genomics era. Genome analysis by GISH using genome painting is demonstrated as an excellent means suitable for visualization of a whole genome, since total genomic DNA representing the overall molecular composition of the genome is used as a probe. FISH on extended DNA fibers has been developed for high-resolution FISH and has contributed to determining the copy number and order of genes. We have also mapped a number of genes involving starch synthesis on wheat chromosomes by FISH and compared the position of these genes on linkage map of rice. Macro synteny between wheat and rice can be observed by comparing the location of these genes in spite of the fact that the size of DNA per chromosome differs by 20 fold in two. Moreover, to approach our goal towards making bread and udon noodles from rice flour in future by incorporating bread making and the noodle qualifies in rice, we have been successful in introducing large genomic DNA fragments containing agronomically important genes of wheat into a rice by successive introduction of large insert BAC clones, there by expanding genetic variability in rice. We call this method genome fusion.

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이배체 유전체들의 서열비교를 위한 유전체 염기서열 생성도구 개발 (Development of a tool to generate diploid genome sequences for whole-genome alignments.)

  • 김종현;박치현;박상현
    • 한국정보처리학회:학술대회논문집
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    • 한국정보처리학회 2007년도 추계학술발표대회
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    • pp.272-273
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    • 2007
  • 현대 유전체학 기술의 진보는 생물학적으로 중요한 의미를 갖는 생물들의 유전체 서열의 규명 genome sequencing)에 힘입은 바 크다. 기존의 유전체 서열결정법은 주로 염기변이율이 낮은 생물들에 초점을 맞추어 왔다. 하지만 염기변이율이 높은 생물들의 유전체 염기서열을 결정할 필요가 높아짐에 따라 이를 위한 방법론에 대한 연구가 활발히 진행되고 있다. 염기변이율이 높은 생물들의 이배체 (diploid) 유전체 서열이 효과적으로 결정될 수 있을 경우 기존의 유전체 서열비교의 방법론에도 변화가 요청되고 있는 실정이다. 기존의 유전체 서열비교 (whole-genome alignment) 방법론은 반수체 (haploid) 유전체들의 서열비교을 위해 개발되었지만, 염기변이율이 높은 생물들의 유전체 서열비교에는 반수체 유전체들 비교에 특화된 도구들이 필요하다. 또한 현재 서열비교를 시각화하는 소프트웨어들도 반수체 유전체 비교를 위해 개발된 실정이다. 본 논문의 목표는 이배체 유전체 서열을 비교하는 방법론을 개발을 용이하기위해 이배체 유전체의 서열을 생성하는 도구를 개발하는 것이다. 개발된 도구는 실제 일어날 수 있는 염기변이와 genomic rearrangement를 사용자의 입력을 받아 다수의 생물들의 유전체 서열을 생성해 낸다. 이를 통해 이배체 유전체 서열을 비교하는 도구의 개발을 용이하게 하는데 초첨을 맞추고 있다.

Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue

  • Lee, Jieun;Cho, Sung-Min;Kim, Min Sung;Lee, Sug Hyung;Chung, Yeun-Jun;Jung, Seung-Hyun
    • Genomics & Informatics
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    • 제15권1호
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    • pp.48-50
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    • 2017
  • Tumor tissues from biopsies or surgery are major sources for the next generation sequencing (NGS) study, but these procedures are invasive and have limitation to overcome intratumor heterogeneity. Recent studies have shown that driver alterations in tumor tissues can be detected by liquid biopsy which is a less invasive technique capable of both capturing the tumor heterogeneity and overcoming the difficulty in tissue sampling. However, it is still unclear whether the driver alterations in liquid biopsy can be detected by targeted NGS and how those related to the tissue biopsy. In this study, we performed whole-exome sequencing for a breast cancer tissue and identified PTEN p.H259fs*7 frameshift mutation. In the plasma DNA (liquid biopsy) analysis by targeted NGS, the same variant initially identified in the tumor tissue was also detected with low variant allele frequency. This mutation was subsequently validated by digital polymerase chain reaction in liquid biopsy. Our result confirm that driver alterations identified in the tumor tissue were detected in liquid biopsy by targeted NGS as well, and suggest that a higher depth of sequencing coverage is needed for detection of genomic alterations in a liquid biopsy.

Perspectives of International Human Epigenome Consortium

  • Bae, Jae-Bum
    • Genomics & Informatics
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    • 제11권1호
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    • pp.7-14
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    • 2013
  • As the International Human Epigenome Consortium (IHEC) launched officially at the 2010 Washington meeting, a giant step toward the conquest of unexplored regions of the human genome has begun. IHEC aims at the production of 1,000 reference epigenomes to the international scientific community for next 7-10 years. Seven member institutions, including South Korea, Korea National Institute of Health (KNIH), will produce 25-200 reference epigenomes individually, and the produced data will be publically available by using a data center. Epigenome data will cover from whole genome bisulfite sequencing, histone modification, and chromatin access information to miRNA-seq. The final goal of IHEC is the production of reference maps of human epigenomes for key cellular status relevant to health and disease.

Introduction to International Ethical Standards Related to Genetics and Genomics

  • Yim, Seon-Hee;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제11권4호
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    • pp.218-223
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    • 2013
  • The rapid advances in genetic knowledge and technology raise various, sometimes unprecedented, ethical dilemmas in the scientific community as well as the public realm. To deal with these dilemmas, the international community has prepared and issued ethical standards in various formats. In this review, seven international standards regarding genetics and genomics will be briefly introduced in chronological order. Critical reflections on them will not be provided in this review, and naturally, they have their own problems and shortcomings. However, a common set of the principles expressed in them will be highlighted here, because they are still relevant, and many of them will be more relevant in the future. Some of the interesting contents will be selected and described. After that, the morality of one recent event related to whole-genome sequencing and person-identifiable genetic data will be explored based on those international standards.

Complete genome sequence of Lactococcus lactis strain K_LL005, a xylose-utilizing bacterium isolated from grasshopper (Oxya chinensis sinuosa)

  • Kim, Hyeri;Guevarra, Robin B.;Cho, Jae Hyoung;Kim, Hyeun Bum;Lee, Ju-Hoon
    • Journal of Animal Science and Technology
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    • 제63권1호
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    • pp.191-193
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    • 2021
  • Lactococcus lactis is a fermentative lactic acid bacterium that is used extensively in food fermentations. The L. lactis strain K_LL005 was isolated from the grasshopper (Oxya chinensis sinuosa) gut in Korea. In this study, we reported the complete genome sequence of Lactococcus lactis K_LL005. The final complete genome assembly consist of one circular chromosome (2,375,093 bp) with an overall guanine + cytosine (G + C) content of 35.0%. Annotation results revealed 2,281 protein-coding sequences (CDSs), 19 rRNAs, and 68 tRNA genes. Lactococcus lactis K_LL005 has a gene encoding xylose metabolism such as xylR, xylA, and xylB (xylRAB).

Draft Genome Sequence of the White-Rot Fungus Schizophyllum Commune IUM1114-SS01

  • Kim, Da-Woon;Nam, Junhyeok;Nguyen, Ha Thi Kim;Lee, Jiwon;Choi, Yongjun;Choi, Jaehyuk
    • Mycobiology
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    • 제49권1호
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    • pp.86-88
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    • 2021
  • The monokaryotic strain, Schizophyllum commune strain IUM1114-SS01, was generated from a basidiospore of dikaryotic parental strain IUM1114. It even showed the decolorizing activities for several textile dyes much better than its parental strain. Based on the results of a single-molecule real-time sequencing technology, we present the draft genome of S. commune IUM1114-SS01, comprising 41.1 Mb with GC contents of the genome were 57.44%. Among 13,380 protein-coding genes, 534 genes are carbon hydrate-active enzyme coding genes.

Complete genome sequence of functional probiotic candidate Lactobacillus amylovorus CACC736

  • Soyeon Park;Jung-Ae Kim;Hyun-Jun Jang;Dae-Hyuk Kim;Yangseon Kim
    • Journal of Animal Science and Technology
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    • 제65권2호
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    • pp.473-477
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    • 2023
  • Lactobacillus amylovorus CACC736 was originated from swine feces in Korea. The complete genome sequences of the strain contained one circular chromosome (2,057,809 base pair [bp]) with 38.2% guanine-cytosine (GC) content and two circular plasmids, namely, pCACC736-1 and pCACC736-2. The predicted protein-coding genes, which are encoding the clustered regularly interspaced short palindromic repeats (CRISPR)-associated proteins, biosynthesis of bacteriocin (helveticin J), and the related proteins of the bile, acid tolerance. Notably, the genes related to vitamin B-group biosynthesis (riboflavin and cobalamin) were also found in L. amylovorus CACC736. Collectively, the complete genome sequence of the L. amylovorus CACC736 will aid in the development of functional probiotics in the animal industry.

Complete Genome Sequencing of Bacillus velezensis WRN014, and Comparison with Genome Sequences of other Bacillus velezensis Strains

  • Wang, Junru;Xing, Juyuan;Lu, Jiangkun;Sun, Yingjiao;Zhao, Juanjuan;Miao, Shaohua;Xiong, Qin;Zhang, Yonggang;Zhang, Guishan
    • Journal of Microbiology and Biotechnology
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    • 제29권5호
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    • pp.794-808
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    • 2019
  • Bacillus velezensis strain WRN014 was isolated from banana fields in Hainan, China. Bacillus velezensis is an important member of the plant growth-promoting rhizobacteria (PGPR) which can enhance plant growth and control soil-borne disease. The complete genome of Bacillus velezensis WRN014 was sequenced by combining Illumina Hiseq 2500 system and Pacific Biosciences SMRT high-throughput sequencing technologies. Then, the genome of Bacillus velezensis WRN014, together with 45 other completed genome sequences of the Bacillus velezensis strains, were comparatively studied. The genome of Bacillus velezensis WRN014 was 4,063,541bp in length and contained 4,062 coding sequences, 9 genomic islands and 13 gene clusters. The results of comparative genomic analysis provide evidence that (i) The 46 Bacillus velezensis strains formed 2 obviously closely related clades in phylogenetic trees. (ii) The pangenome in this study is open and is increasing with the addition of new sequenced genomes. (iii) Analysis of single nucleotide polymorphisms (SNPs) revealed local diversification of the 46 Bacillus velezensis genomes. Surprisingly, SNPs were not evenly distributed throughout the whole genome. (iv) Analysis of gene clusters revealed that rich gene clusters spread over Bacillus velezensis strains and some gene clusters are conserved in different strains. This study reveals that the strain WRN014 and other Bacillus velezensis strains have potential to be used as PGPR and biopesticide.

Elucidating molecular mechanisms of acquired resistance to BRAF inhibitors in melanoma using a microfluidic device and deep sequencing

  • Han, Jiyeon;Jung, Yeonjoo;Jun, Yukyung;Park, Sungsu;Lee, Sanghyuk
    • Genomics & Informatics
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    • 제19권1호
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    • pp.2.1-2.10
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    • 2021
  • BRAF inhibitors (e.g., vemurafenib) are widely used to treat metastatic melanoma with the BRAF V600E mutation. The initial response is often dramatic, but treatment resistance leads to disease progression in the majority of cases. Although secondary mutations in the mitogen-activated protein kinase signaling pathway are known to be responsible for this phenomenon, the molecular mechanisms governing acquired resistance are not known in more than half of patients. Here we report a genome- and transcriptome-wide study investigating the molecular mechanisms of acquired resistance to BRAF inhibitors. A microfluidic chip with a concentration gradient of vemurafenib was utilized to rapidly obtain therapy-resistant clones from two melanoma cell lines with the BRAF V600E mutation (A375 and SK-MEL-28). Exome and transcriptome data were produced from 13 resistant clones and analyzed to identify secondary mutations and gene expression changes. Various mechanisms, including phenotype switching and metabolic reprogramming, have been determined to contribute to resistance development differently for each clone. The roles of microphthalmia-associated transcription factor, the master transcription factor in melanocyte differentiation/dedifferentiation, were highlighted in terms of phenotype switching. Our study provides an omics-based comprehensive overview of the molecular mechanisms governing acquired resistance to BRAF inhibitor therapy.