• Title/Summary/Keyword: NGS

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Performance Evaluation of a RAM based Storage System NGS

  • Kang, Yun-Hee;Kung, Jae-Ha;Cheong, Seung-Kook
    • International Journal of Contents
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    • v.5 no.4
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    • pp.75-80
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    • 2009
  • Recently high-speed memory array based on RAM, which is a type of solid-state drive (SSD), has been introduced to handle the input/output (I/O) bottleneck. But there are only a few performance studies on RAM based SSD storage with regard to diverse workloads. In this paper, we focus on the file system for RAM based memory array based NGS (Next Generation Storage) system which is running on Linux operating system. Then we perform benchmark tests on practical file systems including Ext3, ReiserFS, XFS. The result shows XFS significantly outperforms other file systems in tests that represent the storage and data requests typically made by enterprise applications in many aspects. The experiment is used to design the dedicated file system for NGS system. The results presented here can help enterprises improve their performance significantly.

A Primer for Disease Gene Prioritization Using Next-Generation Sequencing Data

  • Wang, Shuoguo;Xing, Jinchuan
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.191-199
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    • 2013
  • High-throughput next-generation sequencing (NGS) technology produces a tremendous amount of raw sequence data. The challenges for researchers are to process the raw data, to map the sequences to genome, to discover variants that are different from the reference genome, and to prioritize/rank the variants for the question of interest. The recent development of many computational algorithms and programs has vastly improved the ability to translate sequence data into valuable information for disease gene identification. However, the NGS data analysis is complex and could be overwhelming for researchers who are not familiar with the process. Here, we outline the analysis pipeline and describe some of the most commonly used principles and tools for analyzing NGS data for disease gene identification.

The Protostome database (PANM-DB): Version 2.0 release with updated sequences (연체동물 NGS 데이터 분석을 위한 PANM 데이터베이스 업데이트 (Version II))

  • Kang, Se Won;Park, So Young;Patnaik, Bharat Bhusan;Hwang, Hee Ju;Chung, Jong Min;Song, Dae Kwon;Park, Young-Su;Lee, Jun Sang;Han, Yeon Soo;Park, Hong Seog;Lee, Yong Seok
    • The Korean Journal of Malacology
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    • v.32 no.3
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    • pp.185-188
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    • 2016
  • PANM-DB (version 1.0) was constructed as a web-based interface for the analysis and annotation of Next-Generation Sequencing (NGS) data of Mollusca, Arthropoda, and Nematoda. The database collected the sequences of Protostomes (Mollusca, Arthropoda, and Nematoda) from the NCBI Taxonomy Browser, and the same were compiled in a multi-FASTA format and stored using the formatdb program. This improved the processing of the RNA-seq sequences in terms of speed and hit percentage. PANM-DB has been successfully used for the transcriptome annotation of butterfly, land snail, and other commercial mollusca. We have improved the database by updating the same with new sequences and version 2.0 contains a total of 7,571,246 protein sequences (two times more as compared to version 1.0). Furthermore, the updated version contains the Cephalopoda database. The constructed web interface is available that independently analyses following these updates that is an improvement of the mollusks BLAST server. The updated version of PANM-DB will be helpful for the analysis of the NGS based sequencing data of non-model species, especially Mollusca, Arthropoda, Nematoda.

Workflow for Building a Draft Genome Assembly using Public-domain Tools: Toxocara canis as a Case Study (개 회충 게놈 응용 사례에서 공개용 분석 툴을 사용한 드래프트 게놈 어셈블리 생성)

  • Won, JungIm;Kong, JinHwa;Huh, Sun;Yoon, JeeHee
    • KIISE Transactions on Computing Practices
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    • v.20 no.9
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    • pp.513-518
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    • 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.

DNA Reads Partitioning Method for Parallelizing Samblaster (Samblaster 병렬화를 위한 DNA 리드 분할 방법)

  • Lee, Hyeonbyeong;Song, Seokil
    • Proceedings of the Korea Contents Association Conference
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    • 2018.05a
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    • pp.15-16
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    • 2018
  • NGS 분석과정에서는 정확도를 높이기 위해서 중합 효소 연쇄반응 (PCR)을 통해 DNA 리드들을 증폭한다. PCR 증폭은 DNA 리드의 중복을 발생시키며 중복으로 인해 NGS 과정의 정확성이 저하되는 문제가 발생한다. 본 논문에서는 DNA 리드 중복을 제거하는 도구중 하나인 Samblaster 의 병렬화를 위한 DNA 리드 분할 방법을 제안한다. DNA 리드를 분할하여 Samblaster를 병렬 실행 하도록 하여 수행시간을 단축 할 수 있도록 한다.

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Design and Performance Evaluation of Cross-layer ARQ Mechanism Using Local Re-transmission Agent in Next Generation Mobile Networks (차세대 이동 망에서 지역 재전송 에이전트를 이용한 Cross-layer ARQ 메커니즘 설계 및 성능 평가)

  • So, Sang-Gp;Park, Man-Kyu;Lee, Jae-Yong;Kim, Byung-Chul;Kim, Dae-Young
    • Journal of the Institute of Electronics Engineers of Korea TC
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    • v.46 no.8
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    • pp.50-58
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    • 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.

Construction of PANM Database (Protostome DB) for rapid annotation of NGS data in Mollusks

  • Kang, Se Won;Park, So Young;Patnaik, Bharat Bhusan;Hwang, Hee Ju;Kim, Changmu;Kim, Soonok;Lee, Jun Sang;Han, Yeon Soo;Lee, Yong Seok
    • The Korean Journal of Malacology
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    • v.31 no.3
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    • pp.243-247
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    • 2015
  • A stand-alone BLAST server is available that provides a convenient and amenable platform for the analysis of molluscan sequence information especially the EST sequences generated by traditional sequencing methods. However, it is found that the server has limitations in the annotation of molluscan sequences generated using next-generation sequencing (NGS) platforms due to inconsistencies in molluscan sequence available at NCBI. We constructed a web-based interface for a new stand-alone BLAST, called PANM-DB (Protostome DB) for the analysis of molluscan NGS data. The PANM-DB includes the amino acid sequences from the protostome groups-Arthropoda, Nematoda, and Mollusca downloaded from GenBank with the NCBI taxonomy Browser. The sequences were translated into multi-FASTA format and stored in the database by using the formatdb program at NCBI. PANM-DB contains 6% of NCBInr database sequences (as of 24-06-2015), and for an input of 10,000 RNA-seq sequences the processing speed was 15 times faster by using PANM-DB when compared with NCBInr DB. It was also noted that PANM-DB show two times more significant hits with diverse annotation profiles as compared with Mollusks DB. Hence, the construction of PANM-DB is a significant step in the annotation of molluscan sequence information obtained from NGS platforms. The PANM-DB is freely downloadable from the web-based interface (Malacological Society of Korea, http://malacol.or/kr/blast) as compressed file system and can run on any compatible operating system.

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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    • v.15 no.1
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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.