• Title/Summary/Keyword: NGS data analysis

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A Comparison of Mathematically Gifted and Non-gifted Elementary Fifth Grade Students Based on Probability Judgments (초등학교 5학년 수학영재와 일반아의 확률판단 비교)

  • Choi, Byoung-Hoon;Lee, Kyung-Hwa
    • Journal of Educational Research in Mathematics
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    • v.17 no.2
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    • pp.179-199
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    • 2007
  • The purpose of this study was to discover differences between mathematically gifted students (MGS) and non-gifted students (NGS) when making probability judgments. For this purpose, the following research questions were selected: 1. How do MGS differ from NGS when making probability judgments(answer correctness, answer confidence)? 2. When tackling probability problems, what effect do differences in probability judgment factors have? To solve these research questions, this study employed a survey and interview type investigation. A probability test program was developed to investigate the first research question, and the second research question was addressed by interviews regarding the Program. Analysis of collected data revealed the following results. First, both MGS and NGS justified their answers using six probability judgment factors: mathematical knowledge, use of logical reasoning, experience, phenomenon of chance, intuition, and problem understanding ability. Second, MGS produced more correct answers than NGS, and MGS also had higher confidence that answers were right. Third, in case of MGS, mathematical knowledge and logical reasoning usage were the main factors of probability judgment, but the main factors for NGS were use of logical reasoning, phenomenon of chance and intuition. From findings the following conclusions were obtained. First, MGS employ different factors from NGS when making probability judgments. This suggests that MGS may be more intellectual than NGS, because MGS could easily adopt probability subject matter, something not learnt until later in school, into their mathematical schemata. Second, probability learning could be taught earlier than the current elementary curriculum requires. Lastly, NGS need reassurance from educators that they can understand and accumulate mathematical reasoning.

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From genome sequencing to the discovery of potential biomarkers in liver disease

  • Oh, Sumin;Jo, Yeeun;Jung, Sungju;Yoon, Sumin;Yoo, Kyung Hyun
    • BMB Reports
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    • v.53 no.6
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    • pp.299-310
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    • 2020
  • Chronic liver disease progresses through several stages, fatty liver, steatohepatitis, cirrhosis, and eventually, it leads to hepatocellular carcinoma (HCC) over a long period of time. Since a large proportion of patients with HCC are accompanied by cirrhosis, it is considered to be an important factor in the diagnosis of liver cancer. This is because cirrhosis leads to an irreversible harmful effect, but the early stages of chronic liver disease could be reversed to a healthy state. Therefore, the discovery of biomarkers that could identify the early stages of chronic liver disease is important to prevent serious liver damage. Biomarker discovery at liver cancer and cirrhosis has enhanced the development of sequencing technology. Next generation sequencing (NGS) is one of the representative technical innovations in the biological field in the recent decades and it is the most important thing to design for research on what type of sequencing methods are suitable and how to handle the analysis steps for data integration. In this review, we comprehensively summarized NGS techniques for identifying genome, transcriptome, DNA methylome and 3D/4D chromatin structure, and introduced framework of processing data set and integrating multi-omics data for uncovering biomarkers.

Current Status of Cattle Genome Sequencing and Analysis using Next Generation Sequencing (차세대유전체해독 기법을 이용한 소 유전체 해독 연구현황)

  • Choi, Jung-Woo;Chai, Han-Ha;Yu, Dayeong;Lee, Kyung-Tai;Cho, Yong-Min;Lim, Dajeong
    • Journal of Life Science
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    • v.25 no.3
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    • pp.349-356
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    • 2015
  • Thanks to recent advances in next-generation sequencing (NGS) technology, diverse livestock species have been dissected at the genome-wide sequence level. As for cattle, there are currently four Korean indigenous breeds registered with the Domestic Animal Diversity Information System of the Food and Agricultural Organization of the United Nations: Hanwoo, Chikso, Heugu, and Jeju Heugu. These native genetic resources were recently whole-genome resequenced using various NGS technologies, providing enormous single nucleotide polymorphism information across the genomes. The NGS application further provided biological such that Korean native cattle are genetically distant from some cattle breeds of European origins. In addition, the NGS technology was successfully applied to detect structural variations, particularly copy number variations that were usually difficult to identify at the genome-wide level with reasonable accuracy. Despite the success, those recent studies also showed an inherent limitation in sequencing only a representative individual of each breed. To elucidate the biological implications of the sequenced data, further confirmatory studies should be followed by sequencing or validating the population of each breed. Because NGS sequencing prices have consistently dropped, various population genomic theories can now be applied to the sequencing data obtained from the population of each breed of interest. There are still few such population studies available for the Korean native cattle breeds, but this situation will soon be improved with the recent initiative for NGS sequencing of diverse native livestock resources, including the Korean native cattle breeds.

Challenges in Construction of Omics data integration, and its standardization (농생명 오믹스데이터 통합 및 표준화)

  • Kim, Do-Wan;Lee, Tae-Ho;Kim, Chang-Kug;Seol, Young-Joo;Lee, Dong-Jun;Oh, Jae-Hyeon;Beak, Jung-Ho;Kim, Juna;Lee, Hong-Ro
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2015.05a
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    • pp.768-770
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    • 2015
  • We performed integration and standardization of the omics data related agriculture. To do this, we requires progressed computational methods and bioinformatics infrastructures for integration, standardization, mining, and analysis. It makes easier biological knowledge to find. we potentialize registration a row and processed data in NABIC (National Agricultural Biotechnology Information Center) and its processed analysis results were offered related researchers. And we also provided various analysis pipelines, NGS analysis (Reference assembly, RNA-seq), GWAS, Microbial community analysis. In addition, the our system was carried out based on the design and build the quality assurance in management omics information system and constructed the infrastructure for utilization of omics analyze system. We carried out major improvement quality of omics information system. First is Improvement quality of registration category for omics based information. Second is data processing and development platform for web UI about related omics data. Third is development of proprietary management information for omics registration database. Forth is management and development of the statistics module producers about omics data. Last is Improvement the standard upload/ download module for Large omics Registration information.

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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.

Survey of the Applications of NGS to Whole-Genome Sequencing and Expression Profiling

  • Lim, Jong-Sung;Choi, Beom-Soon;Lee, Jeong-Soo;Shin, Chan-Seok;Yang, Tae-Jin;Rhee, Jae-Sung;Lee, Jae-Seong;Choi, Ik-Young
    • Genomics & Informatics
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    • v.10 no.1
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    • pp.1-8
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    • 2012
  • Recently, the technologies of DNA sequence variation and gene expression profiling have been used widely as approaches in the expertise of genome biology and genetics. The application to genome study has been particularly developed with the introduction of the nextgeneration DNA sequencer (NGS) Roche/454 and Illumina/ Solexa systems, along with bioinformation analysis technologies of whole-genome $de$ $novo$ assembly, expression profiling, DNA variation discovery, and genotyping. Both massive whole-genome shotgun paired-end sequencing and mate paired-end sequencing data are important steps for constructing $de$ $novo$ assembly of novel genome sequencing data. It is necessary to have DNA sequence information from a multiplatform NGS with at least $2{\times}$ and $30{\times}$ depth sequence of genome coverage using Roche/454 and Illumina/Solexa, respectively, for effective an way of de novo assembly. Massive shortlength reading data from the Illumina/Solexa system is enough to discover DNA variation, resulting in reducing the cost of DNA sequencing. Whole-genome expression profile data are useful to approach genome system biology with quantification of expressed RNAs from a wholegenome transcriptome, depending on the tissue samples. The hybrid mRNA sequences from Rohce/454 and Illumina/Solexa are more powerful to find novel genes through $de$ $novo$ assembly in any whole-genome sequenced species. The $20{\times}$ and $50{\times}$ coverage of the estimated transcriptome sequences using Roche/454 and Illumina/Solexa, respectively, is effective to create novel expressed reference sequences. However, only an average $30{\times}$ coverage of a transcriptome with short read sequences of Illumina/Solexa is enough to check expression quantification, compared to the reference expressed sequence tag sequence.

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.

Evolutionary Analyses of Hanwoo (Korean Cattle)-Specific Single-Nucleotide Polymorphisms and Genes Using Whole-Genome Resequencing Data of a Hanwoo Population

  • Lee, Daehwan;Cho, Minah;Hong, Woon-young;Lim, Dajeong;Kim, Hyung-Chul;Cho, Yong-Min;Jeong, Jin-Young;Choi, Bong-Hwan;Ko, Younhee;Kim, Jaebum
    • Molecules and Cells
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    • v.39 no.9
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    • pp.692-698
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    • 2016
  • Advances in next generation sequencing (NGS) technologies have enabled population-level studies for many animals to unravel the relationships between genotypic differences and traits of specific populations. The objective of this study was to perform evolutionary analysis of single nucleotide polymorphisms (SNP) in genes of Korean native cattle Hanwoo in comparison to SNP data from four other cattle breeds (Jersey, Simmental, Angus, and Holstein) and four related species (pig, horse, human, and mouse) obtained from public databases through NGS-based resequencing. We analyzed population structures and differentiation levels for the five cattle breeds and estimated species-specific SNPs with their origins and phylogenetic relationships among species. In addition, we identified Hanwoo-specific genes and proteins, and determined distinct changes in protein-protein interactions among five species (cattle, pig, horse, human, mouse) in the STRING network database by additionally considering indirect protein interactions. We found that the Hanwoo population was clearly different from the other four cattle populations. There were Hanwoo-specific genes related to its meat trait. Protein interaction rewiring analysis also confirmed that there were Hanwoo-specific protein-protein interactions that might have contributed to its unique meat quality.

Application of genotyping-by-sequencing (GBS) in plant genome using bioinformatics pipeline

  • Lee, Yun Gyeong;Kang, Chon-Sik;Kim, Changsoo
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.58-58
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    • 2017
  • The advent of next generation sequencing technology has elicited plenty of sequencing data available in agriculturally relevant plant species. For most crop species, it is too expensive to obtain the whole genome sequence data with sufficient coverage. Thus, many approaches have been developed to bring down the cost of NGS. Genotyping-by-sequencing (GBS) is a cost-effective genotyping method for complex genetic populations. GBS can be used for the analysis of genomic selection (GS), genome-wide association study (GWAS) and constructing haplotype and genetic linkage maps in a variety of plant species. For efficiently dealing with plant GBS data, the TASSEL-GBS pipeline is one of the most popular choices for many researchers. TASSEL-GBS is JAVA based a software package to obtain genotyping data from raw GBS sequences. Here, we describe application of GBS and bioinformatics pipeline of TASSEL-GBS for analyzing plant genetics data.

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