• Title/Summary/Keyword: whole-genome analysis

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Whole-genome sequence analysis through online web interfaces: a review

  • Gunasekara, A.W.A.C.W.R.;Rajapaksha, L.G.T.G.;Tung, T.L.
    • Genomics & Informatics
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    • v.20 no.1
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    • pp.3.1-3.10
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    • 2022
  • The recent development of whole-genome sequencing technologies paved the way for understanding the genomes of microorganisms. Every whole-genome sequencing (WGS) project requires a considerable cost and a massive effort to address the questions at hand. The final step of WGS is data analysis. The analysis of whole-genome sequence is dependent on highly sophisticated bioinformatics tools that the research personal have to buy. However, many laboratories and research institutions do not have the bioinformatics capabilities to analyze the genomic data and therefore, are unable to take maximum advantage of whole-genome sequencing. In this aspect, this study provides a guide for research personals on a set of bioinformatics tools available online that can be used to analyze whole-genome sequence data of bacterial genomes. The web interfaces described here have many advantages and, in most cases exempting the need for costly analysis tools and intensive computing resources.

Development of Workbench for Analysis and Visualization of Whole Genome Sequence (전유전체(Whole gerlome) 서열 분석과 가시화를 위한 워크벤치 개발)

  • Choe, Jeong-Hyeon;Jin, Hui-Jeong;Kim, Cheol-Min;Jang, Cheol-Hun;Jo, Hwan-Gyu
    • The KIPS Transactions:PartA
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    • v.9A no.3
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    • pp.387-398
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    • 2002
  • As whole genome sequences of many organisms have been revealed by small-scale genome projects, the intensive research on individual genes and their functions has been performed. However on-memory algorithms are inefficient to analysis of whole genome sequences, since the size of individual whole genome is from several million base pairs to hundreds billion base pairs. In order to effectively manipulate the huge sequence data, it is necessary to use the indexed data structure for external memory. In this paper, we introduce a workbench system for analysis and visualization of whole genome sequence using string B-tree that is suitable for analysis of huge data. This system consists of two parts : analysis query part and visualization part. Query system supports various transactions such as sequence search, k-occurrence, and k-mer analysis. Visualization system helps biological scientist to easily understand whole structure and specificity by many kinds of visualization such as whole genome sequence, annotation, CGR (Chaos Game Representation), k-mer, and RWP (Random Walk Plot). One can find the relations among organisms, predict the genes in a genome, and research on the function of junk DNA using our workbench.

Generation and analysis of whole-genome sequencing data in human mammary epithelial cells

  • Jong-Lyul Park;Jae-Yoon Kim;Seon-Young Kim;Yong Sun Lee
    • Genomics & Informatics
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    • v.21 no.1
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    • pp.11.1-11.5
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    • 2023
  • Breast cancer is the most common cancer worldwide, and advanced breast cancer with metastases is incurable mainly with currently available therapies. Therefore, it is essential to understand molecular characteristics during the progression of breast carcinogenesis. Here, we report a dataset of whole genomes from the human mammary epithelial cell system derived from a reduction mammoplasty specimen. This system comprises pre-stasis 184D cells, considered normal, and seven cell lines along cancer progression series that are immortalized or additionally acquired anchorage-independent growth. Our analysis of the whole-genome sequencing (WGS) data indicates that those seven cancer progression series cells have somatic mutations whose number ranges from 8,393 to 39,564 (with an average of 30,591) compared to 184D cells. These WGS data and our mutation analysis will provide helpful information to identify driver mutations and elucidate molecular mechanisms for breast carcinogenesis.

Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer

  • Park, Jong-Lyul;Kim, Seon-Kyu;Kim, Jeong-Hwan;Yun, Seok Joong;Kim, Wun-Jae;Kim, Won Tae;Jeong, Pildu;Kang, Ho Won;Kim, Seon-Young
    • Genomics & Informatics
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    • v.16 no.3
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    • pp.71-74
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    • 2018
  • Because castration-resistant prostate cancer (CRPC) does not respond to androgen deprivation therapy and has a very poor prognosis, it is critical to identify a prognostic indicator for predicting high-risk patients who will develop CRPC. Here, we report a dataset of whole genomes from four pairs of primary prostate cancer (PC) and CRPC samples. The analysis of the paired PC and CRPC samples in the whole-genome data showed that the average number of somatic mutations per patients was 7,927 in CRPC tissues compared with primary PC tissues (range, 1,691 to 21,705). Our whole-genome sequencing data of primary PC and CRPC may be useful for understanding the genomic changes and molecular mechanisms that occur during the progression from PC to CRPC.

Whole genome sequence analyses of thermotolerant Bacillus sp. isolates from food

  • Phornphan Sornchuer;Kritsakorn Saninjuk;Pholawat Tingpej
    • Genomics & Informatics
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    • v.21 no.3
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    • pp.35.1-35.12
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    • 2023
  • The Bacillus cereus group, also known as B. cereus sensu lato (B. cereus s.l.), is composed of various Bacillus species, some of which can cause diarrheal or emetic food poisoning. Several emerging highly heat-resistant Bacillus species have been identified, these include B. thermoamylovorans, B. sporothermodurans, and B. cytotoxicus NVH 391-98. Herein, we performed whole genome analysis of two thermotolerant Bacillus sp. isolates, Bacillus sp. B48 and Bacillus sp. B140, from an omelet with acacia leaves and fried rice, respectively. Phylogenomic analysis suggested that Bacillus sp. B48 and Bacillus sp. B140 are closely related to B. cereus and B. thuringiensis, respectively. Whole genome alignment of Bacillus sp. B48, Bacillus sp. B140, mesophilic strain B. cereus ATCC14579, and thermophilic strain B. cytotoxicus NVH 391-98 using the Mauve program revealed the presence of numerous homologous regions including genes responsible for heat shock in the dnaK gene cluster. However, the presence of a DUF4253 domain-containing protein was observed only in the genome of B. cereus ATCC14579 while the intracellular protease PfpI family was present only in the chromosome of B. cytotoxicus NVH 391-98. In addition, prophage Clp protease-like proteins were found in the genomes of both Bacillus sp. B48 and Bacillus sp. B140 but not in the genome of B. cereus ATCC14579. The genomic profiles of Bacillus sp. isolates were identified by using whole genome analysis especially those relating to heat-responsive gene clusters. The findings presented in this study lay the foundations for subsequent studies to reveal further insights into the molecular mechanisms of Bacillus species in terms of heat resistance mechanisms.

No excessive mutations in transcription activator-like effector nuclease-mediated α-1,3-galactosyltransferase knockout Yucatan miniature pigs

  • Choi, Kimyung;Shim, Joohyun;Ko, Nayoung;Park, Joonghoon
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.2
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    • pp.360-372
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    • 2020
  • Objective: Specific genomic sites can be recognized and permanently modified by genome editing. The discovery of endonucleases has advanced genome editing in pigs, attenuating xenograft rejection and cross-species disease transmission. However, off-target mutagenesis caused by these nucleases is a major barrier to putative clinical applications. Furthermore, off-target mutagenesis by genome editing has not yet been addressed in pigs. Methods: Here, we generated genetically inheritable α-1,3-galactosyltransferase (GGTA1) knockout Yucatan miniature pigs by combining transcription activator-like effector nuclease (TALEN) and nuclear transfer. For precise estimation of genomic mutations induced by TALEN in GGTA1 knockout pigs, we obtained the whole-genome sequence of the donor cells for use as an internal control genome. Results: In-depth whole-genome sequencing analysis demonstrated that TALEN-mediated GGTA1 knockout pigs had a comparable mutation rate to homologous recombination-treated pigs and wild-type strain controls. RNA sequencing analysis associated with genomic mutations revealed that TALEN-induced off-target mutations had no discernable effect on RNA transcript abundance. Conclusion: Therefore, TALEN appears to be a precise and safe tool for generating genomeedited pigs, and the TALEN-mediated GGTA1 knockout Yucatan miniature pigs produced in this study can serve as a safe and effective organ and tissue resource for clinical applications.

Genome analysis of Bacteroides sp. CACC 737 isolated from feline for its potential application

  • Kim, Jung-Ae;Jung, Min Young;Kim, Dae-Hyuk;Kim, Yangseon
    • Journal of Animal Science and Technology
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    • v.62 no.6
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    • pp.952-955
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    • 2020
  • Bacteroides sp. CACC 737 was isolated from a feline, and its potential probiotic properties were characterized using functional genome analysis. Whole-genome sequencing was performed using the PacBio RSII and Illumina HiSeq platforms. The complete genome of strain CACC 737 contained 4.6 Mb, with a guanine (G) + cytosine (C) content of 45.8%, six cryptic plasmids, and extracellular polysaccharide gene as unique features. The strain was beneficial to animal health when consumed as feed, for example, for ameliorating immunological dysfunctions and metabolic disorders. The genome information adds to the comprehensive understanding of Bacteroides sp. and suggests potential animal-related industrial applications for this strain.

Draft genome of Semisulcospira libertina, a species of freshwater snail

  • Gim, Jeong-An;Baek, Kyung-Wan;Hah, Young-Sool;Choo, Ho Jin;Kim, Ji-Seok;Yoo, Jun-Il
    • Genomics & Informatics
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    • v.19 no.3
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    • pp.32.1-32.10
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    • 2021
  • Semisulcospira libertina, a species of freshwater snail, is widespread in East Asia. It is important as a food source. Additionally, it is a vector of clonorchiasis, paragonimiasis, metagonimiasis, and other parasites. Although S. libertina has ecological, commercial, and clinical importance, its whole-genome has not been reported yet. Here, we revealed the genome of S. libertina through de novo assembly. We assembled the whole-genome of S. libertina and determined its transcriptome for the first time using Illumina NovaSeq 6000 platform. According to the k-mer analysis, the genome size of S. libertina was estimated to be 3.04 Gb. Using RepeatMasker, a total of 53.68% of repeats were identified in the genome assembly. Genome data of S. libertina reported in this study will be useful for identification and conservation of S. libertina in East Asia.

Whole genome sequencing of foot-and-mouth disease virus using benchtop next generation sequencing (NGS) system

  • Moon, Sung-Hyun;Oh, Yeonsu;Tark, Dongseob;Cho, Ho-Seong
    • Korean Journal of Veterinary Service
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    • v.42 no.4
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    • pp.297-300
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    • 2019
  • In countries with FMD vaccination, as in Korea, typical clinical signs do not appear, and even in FMD positive cases, it is difficult to isolate the FMDV or obtain whole genome sequence. To overcome this problem, more rapid and simple NGS system is required to control FMD in Korea. FMDV (O/Boeun/ SKR/2017) RNA was extracted and sequenced using Ion Torrent's bench-top sequencer with amplicon panel with optimized bioinformatics pipelines. The whole genome sequencing of raw data generated data of 1,839,864 (mean read length 283 bp) reads comprising a total of 521,641,058 (≥Q20 475,327,721). Compared with FMDV (GenBank accession No. MG983730), the FMDV sequences in this study showed 99.83% nucleotide identity. Further study is needed to identify these differences. In this study, fast and robust methods for benchtop next generation sequencing (NGS) system was developed for analysis of Foot-and-mouth disease virus (FMDV) whole genome sequences.

Genomic Analysis of Dairy Starter Culture Streptococcus thermophilus MTCC 5461

  • Prajapati, Jashbhai B.;Nathani, Neelam M.;Patel, Amrutlal K.;Senan, Suja;Joshi, Chaitanya G.
    • Journal of Microbiology and Biotechnology
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    • v.23 no.4
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    • pp.459-466
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    • 2013
  • The lactic acid bacterium Streptococcus thermophilus is widely used as a starter culture for the production of dairy products. Whole-genome sequencing is expected to utilize the genetic basis behind the metabolic functioning of lactic acid bacterium (LAB), for development of their use in biotechnological and probiotic applications. We sequenced the whole genome of Streptococcus thermophilus MTCC 5461, the strain isolated from a curd source, by 454 GS-FLX titanium and Ion Torrent PGM. We performed comparative genome analysis using the local BLAST and RDP for 16S rDNA comparison and by the RAST server for functional comparison against the published genome sequence of Streptococcus thermophilus CNRZ 1066. The whole genome size of S. thermophilus MTCC 5461 is of 1.73Mb size with a GC content of 39.3%. Streptococcal virulence-related genes are either inactivated or absent in the strain. The genome possesses coding sequences for features important for a probiotic organism such as adhesion, acid tolerance, bacteriocin production, and lactose utilization, which was found to be conserved among the strains MTCC 5461 and CNRZ 1066. Biochemical analysis revealed the utilization of 17 sugars by the bacterium, where the presence of genes encoding enzymes involved in metabolism for 16 of these 17 sugars were confirmed in the genome. This study supports the facts that the strain MTCC 5461 is nonpathogenic and harbors essential features that can be exploited for its probiotic potential.