• Journal of Life Science
• /
• v.25 no.3
• /
• pp.357-367
• /
• 2015

With the ongoing development of next-generation sequencing (NGS) platforms and advancements in the latest bioinformatics tools at an unprecedented pace, the ultimate goal of sequencing the human genome for less than $1,000 can be feasible in the near future. The rapid technological advances in NGS have brought about increasing demands for statistical methods and bioinformatics tools for the analysis and management of NGS data. Even in the early stages of the commercial availability of NGS platforms, a large number of applications or tools already existed for analyzing, interpreting, and visualizing NGS data. However, the availability of this plethora of NGS data presents a significant challenge for storage, analyses, and data management. Intrinsically, the analysis of NGS data includes the alignment of sequence reads to a reference, base-calling, and/or polymorphism detection, de novo assembly from paired or unpaired reads, structural variant detection, and genome browsing. While the NGS technologies have allowed a massive increase in available raw sequence data, a number of new informatics challenges and difficulties must be addressed to improve the current state and fulfill the promise of genome research. This review aims to provide an overview of major NGS technologies and bioinformatics tools for NGS data analyses.

• Proceedings of the KAIS Fall Conference
• /
• 2009.05a
• /
• pp.796-799
• /
• 2009

NGS(Next Generation Storage) 시스템은 전형적인 분산파일 시스템 구조의 병목 현상을 제거하고 입출력 대역폭을 늘려 성능을 최대화 하기 위한 차세대 저장시스템으로 기존의 저장시스템과는 달리 DRAM을 기반으로 스토리지를 구성하고 있다. NGS 시스템의 대용량 지원 및 기업 내부에서의 활용을 위해서는 SAN 기반에서 활용할 수 있도록 설계되어야 하며, SAN 환경에서 성능 향상을 위한 연구가 필요하다. 본 논문에서는 NGS 시스템에 대한 성능평가 및 분산 환경에서 NGS 를 활용하기 위한 성능평가도구 개발을 기술한다. 성능 도구의 활용은 전형적인 전체 시스템 아키텍처 내의 병목 현상을 제거하고 입출력 대역폭을 늘려 성능을 최대화 할 수 있어야 한다.

• KIPS Transactions on Software and Data Engineering
• /
• v.2 no.2
• /
• pp.107-112
• /
• 2013

With the progress of NGS technologies, large genome data have been exploded recently. To analyze such data effectively, the assistance of HPC technique is necessary. In this paper, we organized a genome analysis pipeline to call SNP from NGS data. To organize the pipeline efficiently under HPC environment, we analyzed the CPU utilization pattern of each pipeline steps. We found that sequence alignment is computing centric and suitable for parallelization. We also analyzed the performance of parallel open source alignment tools and found that alignment method utilizing many-core processor can improve the performance of genome analysis pipeline.

• The Korean Journal of Blood Transfusion
• /
• v.29 no.3
• /
• pp.310-319
• /
• 2018

Background: Research on next-generation sequencing (NGS)-based HLA typing is active. To resolve the phase ambiguity and long turn-around-time of conventional high resolution HLA typing, this study developed a NGS-based high resolution HLA typing method that can handle large-scale samples within an efficient testing time. Methods: For HLA NGS, the condition of nucleic acid extraction, library construction, PCR mechanism, and HLA typing with bioinformatics were developed. To confirm the accuracy of the NGS-based HLA typing method, the results of 192 samples HLA typed by SSOP and 28 samples typed by SBT compared to NGS-based HLA-A, -B and -DR typing. Results: DNA library construction through two-step PCR, NGS sequencing with MiSeq (Illumina Inc., San Diego, USA), and the data analysis platform were established. NGS-based HLA typing results were compatible with known HLA types from 220 blood samples. Conclusion: The NSG-based HLA typing method could handle large volume samples with high-throughput. Therefore, it would be useful for HLA typing of bone marrow donation volunteers.

• Journal of Plant Biotechnology
• /
• v.43 no.4
• /
• pp.411-416
• /
• 2016

Next-generation sequencing allows the identification of mutations responsible for mutant phenotypes by whole-genome resequencing and alignment to a reference genome. However, when the resequenced cultivar/line displays significant structural variation from the reference genome, mutations in the genome regions absent in the reference cannot be identified by simple alignment. In this review, we report the current status and prospects in identification of genes in mutant phenotypes, by using the methods MutMap, MutMap-Gap, and MutMap+. These methods delineate a candidate region harboring a mutation of interest, followed by de novo assembly, alignment, and identification of the mutation within genome gaps. These methods are likely to prove useful for cloning genes that exhibit significant structural variations, such as disease resistance genes of the nucleotide-binding site-leucine rich repeat (NBS-LRR) class.

• Proceedings of the Korean Information Science Society Conference
• /
• 2012.06c
• /
• pp.25-27
• /
• 2012

디노버 어셈블리는 레퍼런스 시퀀스 없이 리드의 염기 서열 정보를 이용하여 원래의 전체 시퀀스(original sequence)로 추정되는 시퀀스로 리드들을 재구성하는 방식이다. 최근의 NGS(Next Generation Sequencing) 기술은 대용량 리드를 훨씬 쉽게 저비용으로 생성할 수 있다는 장점이 있어, 이를 이용한 많은 연구가 이루어지고 있다. 그러나 NGS 리드 데이터를 이용한 디노버 어셈블리에 관한 연구는 국내외적으로 매우 미흡한 실정이다. 그 이유는 NGS 리드 데이터를 이용하여 디노버 어셈블리를 수행하는 경우 대용량 데이터, 복잡한 데이터 구조 및 처리 과정 등으로 인하여 매우 많은 시간과 공간이 소요될 뿐만 아니라 아직까지 다양한 분석 툴과 노하우 등이 충분히 개발되어 있지 않기 때문이다. 본 연구에서는 NGS 리드 데이터를 이용한 어셈블리의 실효성과 정확성을 검증한다. 또한 디노버 어셈블리의 처리 시간 및 공간 오버헤드를 해결하기 위하여 유사 종과의 리드 정렬을 활용하는 방안을 제안한다.

• Journal of the Korea Institute of Military Science and Technology
• /
• v.27 no.4
• /
• pp.507-515
• /
• 2024

Microbial forensics is a scientific discipline for analyzing evidence related to biological crimes by identifying the origin of microorganisms. Multiple locus variable number tandem repeat analysis(MLVA) is one of the microbiological analysis methods used to specify subtypes within a species based on the number of tandem repeat in the genome, and advances in next generation sequencing(NGS) technology have enabled in silico anlysis of full-length whole genome sequences. In this paper, we analyzed unknown samples provided by Robert Koch Institute(RKI) through The United Nations Secretary-General's Mechanism(UNSGM)'s external quality assessment exercise(EQAE) project, which we officially participated in 2023. We confirmed that the 3 unknown samples were B. anthracis through nucleic acid isolation and genetic sequence analysis studies. MLVA results on 32 loci of B. anthracis were analysed by using genome sequences obtained from NGS(NextSeq and MinION) and Sanger sequencing. The MLVA typing using short-reads based NGS platform(NextSeq) showed a high probability of causing assembly error when a size of the tandem repeats was grater than 200 bp, while long-reads based NGS platform(MinION) showed higher accuracy than NextSeq, although insertion and deletion was observed. We also showed hybrid assembly can correct most indel error caused by MinION. Based on the MLVA results, genetic identification was performed compared to the 2,975 published MLVA databases of B. anthracis, and MLVA results of 10 strains were identical with 3 unkonwn samples. As a result of whole genome alignment of the 10 strains and 3 unknown samples, all samples were identified as B. anthracis strain A4564 which is associated with injectional anthrax isolates in heroin users.

• Korean Journal of Breeding Science
• /
• v.50 no.4
• /
• pp.364-377
• /
• 2018

Hexaploid wheat (common wheat/bread wheat) is one of the most important cereal crops in the world and a model for research of an allopolyploid plant with a large, highly repetitive genome. In the heritability of agronomic traits, variation in gene presence/absence plays an important role. However, there have been relatively few studies on the variation in gene presence/absence in crop species, including common wheat. Recently, a reference genome sequence of common wheat has been fully annotated and published. In addition, advanced next-generation sequencing (NGS) technology provides high quality genome sequences with continually decreasing NGS prices, thereby dawning full-scale wheat functional genomic studies in other crops as well as common wheat, in spite of their large and complex genomes. In this review, we provide information about the available tools and methodologies for wheat functional genomics research supported by NGS technology. The use of the NGS and functional genomics technology is expected to be a powerful strategy to select elite lines for a number of germplasms.

• Journal of the Institute of Electronics Engineers of Korea TC
• /
• v.46 no.8
• /
• pp.50-58
• /
• 2009

Fourth generation mobile communication network have the technology of extensive form include basic service technology and it has been developed from the radio access technology and network topology. Not only fourth generation mobile communication network have basically done new highspeed radio access technology which is suitable to high and low speed environment of transfer, but also it is possible that they have been made for freely vertical handover. ETRI also has made fourth generation mobile communication network which is WiNGS(Wireless Initiative for Next Generation Service) satisfied that demand. This paper is made by lossless handover method through the local retransmission ARQ agent that is one of the main technology of fourth generation mobile communication network. Lossless handover method through local retransmission ARQ agent has been basically made by WiNGS and it was better than original local retransmission of layer by simulation.

• KIISE Transactions on Computing Practices
• /
• v.20 no.9
• /
• pp.513-518
• /
• 2014

It has become possible for small scale laboratories to interpret large scale genomic DNA, thanks to the reduction of the sequencing cost by the development of next generation sequencing (NGS). De novo assembly is a method which creates a putative original sequence by reconstructing reads without using a reference sequence. There have been various study results on de novo assembly, however, it is still difficult to get the desired results even by using the same assembly procedures and the analysis tools which were suggested in the studies reported. This is mainly because there are no specific guidelines for the assembly procedures or know-hows for the use of such analysis tools. In this study, to resolve these problems, we introduce steps to finding whole genome of an unknown DNA via NGS technology and de novo assembly, while providing the pros and cons of the various analysis tools used in each step. We used 350Mbp of Toxocara canis DNA as an application case for the detailed explanations of each stated step. We also extend our works for prediction of protein-coding genes and their functions from the draft genome sequence by comparing its homology with reference sequences of other nematodes.