• Title/Summary/Keyword: Genome analysis

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Genome-wide Analysis of Aberrant DNA Methylation for Identification of Potential Biomarkers in Colorectal Cancer Patients

  • Fang, Wei-Jia;Zheng, Yi;Wu, Li-Ming;Ke, Qing-Hong;Shen, Hong;Yuan, Ying;Zheng, Shu-Sen
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.1917-1921
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    • 2012
  • Background: Colorectal cancer is one of the leading causes of mortality worldwide. Genome wide analysis studies have identified sequence mutations causing loss-of-function that are associated with disease occurrence and severity. Epigenetic modifications, such DNA methylation, have also been implicated in many cancers but have yet to be examined in the East Asian population of colorectal cancer patients. Methods: Biopsies of tumors and matched non-cancerous tissue types were obtained and genomic DNA was isolated and subjected to the bisulphite conversion method for comparative DNA methylation analysis on the Illumina Infinium HumanMethylation27 BeadChip. Results: Totals of 258 and 74 genes were found to be hyper- and hypo-methylated as compared to the individual's matched control tissue. Interestingly, three genes that exhibited hypermethylation in their promoter regions, CMTM2, ECRG4, and SH3GL3, were shown to be significantly associated with colorectal cancer in previous studies. Using heatmap cluster analysis, eight hypermethylated and 10 hypomethylated genes were identified as significantly differentially methylated genes in the tumour tissues. Conclusions: Genome-wide methylation profiling facilitates rapid and simultaneous analysis of cancerous cells which may help to identify methylation markers with high sensitivity and specificity for diagnosis and prognosis. Our results show the promise of the microarray technology in identification of potential methylation biomarkers for colorectal cancers.

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.

Korea Brassica Genome Project: Current Status and Prospective (배추 유전체열구의 현황과 전망)

  • Choi, Su-Ryun;Park, Jee-Yong;Park, Beom-Seok;Kim, Ho-Il;Lim, Yong-Pyo
    • Journal of Plant Biotechnology
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    • v.33 no.3
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    • pp.153-160
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    • 2006
  • Brassica rape is an important species used as a vegetable, oil, and fodder worldwide. It is related phylogenically to Arabidopsis thaliana, which has already been fully sequenced as a model plant. The 'Multinational Brassica Genome Project (MBGP)'was launched by the international Brassica community with the aim of sequencing the whole genome of B. rapa in 2003 on account of its value and the fact that it has the smallest genome among the diploid Brassica. The genome study was carried out not only to know the structure of genome but also to understand the function and the evolution of the genes comprehensively. There are two mapping populations, over 1,000 molecular markers and a genetic map, 2 BAC libraries, physical map, a 22 cDHA libraries as suitable genomic materials for examining the genome of B. rapa ssp. pekinensis Chinese cabbage. As the first step for whole genome analysis, 220,000 BAC-end sequences of the KBrH and KBrB BAC library are achieved by cooperation of six countries. The results of BAC-end sequence analysis will provide a clue in understanding the structure of the genome of Brassica rapa by analyzing the gene sequence, annotation and abundant repetitive DHA. The second stage involves sequencing of the genetically mapped seed BACs and identifying the overlapping BACs for complete genome sequencing. Currently, the second stage is comprises of process genetic anchoring using communal populations and maps to identify more than 1,000 seed BACs based on a BAC-to-BAC strategy. For the initial sequencing, 629 seed BACs corresponding to the minimum tiling path onto Arabidopsis genome were selected and fully sequenced. These BACs are now anchoring to the genetic map using the development of SSR markers. This information will be useful for identifying near BAC clones with the seed BAC on a genome map. From the BAC sequences, it is revealed that the Brassica rapa genome has extensive triplication of the DNA segment coupled with variable gene losses and rearrangements within the segments. This article introduces the current status and prospective of Korea Brassica Genome Project and the bioinformatics tools possessed in each national team. In the near future, data of the genome will contribute to improving Brassicas for their economic use as well as in understanding the evolutional process.

Perspectives of Integrative Cancer Genomics in Next Generation Sequencing Era

  • Kwon, So-Mee;Cho, Hyun-Woo;Choi, Ji-Hye;Jee, Byul-A;Jo, Yun-A;Woo, Hyun-Goo
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.69-73
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    • 2012
  • The explosive development of genomics technologies including microarrays and next generation sequencing (NGS) has provided comprehensive maps of cancer genomes, including the expression of mRNAs and microRNAs, DNA copy numbers, sequence variations, and epigenetic changes. These genome-wide profiles of the genetic aberrations could reveal the candidates for diagnostic and/or prognostic biomarkers as well as mechanistic insights into tumor development and progression. Recent efforts to establish the huge cancer genome compendium and integrative omics analyses, so-called "integromics", have extended our understanding on the cancer genome, showing its daunting complexity and heterogeneity. However, the challenges of the structured integration, sharing, and interpretation of the big omics data still remain to be resolved. Here, we review several issues raised in cancer omics data analysis, including NGS, focusing particularly on the study design and analysis strategies. This might be helpful to understand the current trends and strategies of the rapidly evolving cancer genomics research.

Comparative Analysis of Completely Sequenced Insect Mitochondrial Genomes

  • Lee, Jin-Sung;Kim, Ki-Hwan;Suh, Dong-Sang;Park, Jae-Heung;Suh, Ji-Yoeun;Chung, Kyu-Hoi;Hwang, Jae-Sam
    • International Journal of Industrial Entomology and Biomaterials
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    • v.2 no.1
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    • pp.1-6
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    • 2001
  • This paper reports a few characteristics of seven insect mitochondrial genomes sequenced completely (Bombyx mori, Drosophila melanogaster, D. yakuba, Apis mellifera, Anopheles gambiae, A. quadrimaculatus, and Locusta migratoria). Comparative analysis of complete mt genome sequences from several species revealed a number of interesting features (base composition, gene content, A+T-rich region, and gene arrangement, etc) of insect mitochondrial genome. The properties revealed by our work shed new light on the organization and evolution of the insect mitochondrial genome and more importantly open up the way to clearly aimed experimental studies for understanding critical roles of the regulatory mechanisms (transcription and translation) in mitochondrial gene expression.

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A replication study of genome-wide CNV association for hepatic biomarkers identifies nine genes associated with liver function

  • Kim, Hyo-Young;Byun, Mi-Jeong;Kim, Hee-Bal
    • BMB Reports
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    • v.44 no.9
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    • pp.578-583
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    • 2011
  • Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are biochemical markers used to test for liver diseases. Copy number variation (CNV) plays an important role in determining complex traits and is an emerging area in the study various diseases. We performed a genome-wide association study with liver function biomarkers AST and ALT in 407 unrelated Koreans. We assayed the genome-wide variations on an Affymetrix Genome-Wide 6.0 array, and CNVs were analyzed using HelixTree. Using single linear regression, 32 and 42 CNVs showed significance for AST and ALT, respectively (P value < 0.05). We compared CNV-based genes between the current study (KARE2; AST-140, ALT-172) and KARE1 (AST-1885, ALT-773) using NetBox. Results showed 9 genes (CIDEB, DFFA, PSMA3, PSMC5, PSMC6, PSMD12, PSMF1, SDC4, and SIAH1) were overlapped for AST, but no overlapped genes were found for ALT. Functional gene annotation analysis shown the proteasome pathway, Wnt signaling pathway, programmed cell death, and protein binding.

The Complete Genome Sequence of Southern rice black-streaked dwarf virus Isolated from Vietnam

  • Dinh, Thi-Sau;Zhou, Cuiji;Cao, Xiuling;Han, Chenggui;Yu, Jialin;Li, Dawei;Zhang, Yongliang
    • The Plant Pathology Journal
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    • v.28 no.4
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    • pp.428-432
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    • 2012
  • We determined the complete genome sequence of a Vietnamese isolate of Southern rice black-streaked dwarf virus (SRBSDV). Whole genome comparisons and phylogenetic analysis showed that the genome of the Vietnamese isolate shared high nucleotide sequence identities of over 97.5% with those of the reported Chinese isolates, confirming a common origin of them. Moreover, the greatest divergence between different SRBSDV isolates was found in the segments S1, S3, S4 and S6, which differs from the sequence alignment results between SRBSDV and Rice black streaked dwarf virus (RBSDV), implying that SRBSDV evolved in a unique way independent of RBSDV. This is the first report of a complete nucleotide sequence of SRBSDV from Vietnam and our data provides new clues for further understanding of molecular variation and epidemiology of SRBSDV in Southeast Asia.

Phage Conversion for β-Lactam Antibiotic Resistance of Staphylococcus aureus from Foods

  • Lee, Young-Duck;Park, Jong-Hyun
    • Journal of Microbiology and Biotechnology
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    • v.26 no.2
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    • pp.263-269
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    • 2016
  • Temperate phages have been suggested to carry virulence factors and other lysogenic conversion genes that play important roles in pathogenicity. In this study, phage TEM123 in wild-type Staphylococcus aureus from food sources was analyzed with respect to its morphology, genome sequence, and antibiotic resistance conversion ability. Phage TEM123 from a mitomycin C-induced lysate of S. aureus was isolated from foods. Morphological analysis under a transmission electron microscope revealed that it belonged to the family Siphoviridae. The genome of phage TEM123 consisted of a double-stranded DNA of 43,786 bp with a G+C content of 34.06%. A bioinformatics analysis of the phage genome identified 43 putative open reading frames (ORFs). ORF1 encoded a protein that was nearly identical to the metallo-β-lactamase enzymes that degrade β-lactam antibiotics. After transduction to S. aureus with phage TEM123, the metallo-β-lactamase gene was confirmed in the transductant by PCR and sequencing analyses. In a β-lactam antibiotic susceptibility test, the transductant was more highly resistant to β-lactam antibiotics than S. aureus S133. Phage TEM123 might play a role in the transfer of β-lactam antibiotic resistance determinants in S. aureus. Therefore, we suggest that the prophage of S. aureus with its exotoxin is a risk factor for food safety in the food chain through lateral gene transfer.

Short Reads Phasing to Construct Haplotypes in Genomic Regions That Are Associated with Body Mass Index in Korean Individuals

  • Lee, Kichan;Han, Seonggyun;Tark, Yeonjeong;Kim, Sangsoo
    • Genomics & Informatics
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    • v.12 no.4
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    • pp.165-170
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    • 2014
  • Genome-wide association (GWA) studies have found many important genetic variants that affect various traits. Since these studies are useful to investigate untyped but causal variants using linkage disequilibrium (LD), it would be useful to explore the haplotypes of single-nucleotide polymorphisms (SNPs) within the same LD block of significant associations based on high-density variants from population references. Here, we tried to make a haplotype catalog affecting body mass index (BMI) through an integrative analysis of previously published whole-genome next-generation sequencing (NGS) data of 7 representative Korean individuals and previously known Korean GWA signals. We selected 435 SNPs that were significantly associated with BMI from the GWA analysis and searched 53 LD ranges nearby those SNPs. With the NGS data, the haplotypes were phased within the LDs. A total of 44 possible haplotype blocks for Korean BMI were cataloged. Although the current result constitutes little data, this study provides new insights that may help to identify important haplotypes for traits and low variants nearby significant SNPs. Furthermore, we can build a more comprehensive catalog as a larger dataset becomes available.

Genome Profiling for Health Promoting and Disease Preventing Traits Unraveled Probiotic Potential of Bacillus clausii B106

  • Kapse, N.G.;Engineer, A.S.;Gowdaman, V.;Wagh, S.;Dhakephalkar, P.K.
    • Microbiology and Biotechnology Letters
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    • v.46 no.4
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    • pp.334-345
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    • 2018
  • Spore-forming Bacillus species are commercially available probiotic formulations for application in humans. They have health benefits and help prevent disease in hosts by combating entero-pathogens and ameliorating antibiotic-associated diarrhea. However, the molecular and cellular mechanisms of these benefits remain unclear. Here, we report the draft genome of a potential probiotic strain of Bacillus clausii B106. We mapped and compared the probiotic profile of B106 with other reference genomes. The draft genome analysis of B106 revealed the presence of ADI pathway genes, indicating its ability to tolerate acidic pH and bile salts. Genes encoding fibronectin binding proteins, enolase, as well as a gene cluster involved in the biosynthesis of exopolysaccharides underscored the potential of B106 to adhere to the intestinal epithelium and colonize the human gut. Genes encoding bacteriocins were also detected, indicating the antimicrobial ability of this isolate. The presence of genes encoding vitamins, including Riboflavin, Folate, and Biotin, also indicated the health-promoting ability of B106. Resistance of B106 to multiple antibiotics was evident from the presence of genes encoding resistance to chloramphenicol, ${\beta}$-lactams, Vancomycin, Tetracycline, fluoroquinolones, and aminoglycosides. The findings indicate the significance of B. clausii B106 administration during antibiotic treatment and its potential value as a probiotic strain to replenish the health-promoting and disease-preventing gut flora following antibiotic treatment.