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    Home > Biochemistry News > Biotechnology News > 23GENEBANK: Building a complete "Gene Sequencing Data Analysis Platform"

    23GENEBANK: Building a complete "Gene Sequencing Data Analysis Platform"

    • Last Update: 2020-08-09
    • Source: Internet
    • Author: User
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    There is no doubt that with the rapid development of next-generation sequencing (NGS) technology, its application in cancer, genetic disease sedization and other fields continue to expand and popularize, gene sequencing data is growing at an unprecedented rate! In the face of the increasing amount of genetic data, it is a great challenge to analyze and interpret it.
    a complete genetic testing process, mainly related to the following steps: 1 DNA extraction, library sequencing; 2 primary bioinformatics analysis to obtain variation information, advanced information bioanalysis to obtain associated data; 3, 3, the final generation of the customer can be concise and easy test report.
    , step 1 has a large number of experimental suppliers to look for, but the higher technical content of steps 2 and 3, one-stop solution providers, is relatively scarce, but also involved in the gene testing industry, can achieve a good market reputation to form a good market effect of the key.
    whether at home or abroad, there is no unified biological data analysis platform, genetic data analysis is still the core of genetic testing, is an important part of NGS.
    find pathogenic mutations in the original sequencing results, AND SNP, Indels, fusion, amplification, etc., are the important basis for the prediction, diagnosis and treatment strategy of the disease.
    the data analysis tools previously available on the market, the function is relatively single, the scope of application is narrow.
    one tool may be used for calibration alignment, another tool may be used for variation annotations, such as Annovar, SnpEff, VEP, Oncotator, and selecting the right software annotationvariants is critical for downstream analysis.
    , it is difficult for companies or laboratories that do not have a professional bioinformatics team to conduct complete genetic testing for complex genetic data analysis services, which has led many agencies to outsource this process.
    next, we dissected the features and applications of the GIAS (Gene GenomicBanks data Integrated Analysis System) platform, developed by 23GENEBANK for sequencing data analysis.
    GIAS platform contains the company's years of development in genetic testing, enabling simple, processed operations from raw sequencing data analysis to PDF reporting, significantly reducing the time and cost of personnel training. Ms. Cai, head of
    23GENEBANK, said giaS has many advantages over similar products in the market, including: high portability, multi-technology platform support, one-click generation reports, clinical/retail dual scenarios, etc., in which clinical/retail dual scenarios are GIAS's unique advantages, combining the company's health line and clinical line content.
    GIAS platform not only has a market-leading consumer gene testing program, can analyze health projects nearly 7000 items, but also can carry out clinical cancer treatment in chemotherapy drugs, targeted drugs, immunopharmaceutical analysis.
    , therefore, enterprises that want to enter the gene testing market can propose different needs according to their own market positioning and application scenarios, 23GENEBANK will provide customized modules according to specific needs, and eventually present a complete E2E product development program.
    , according to GIAS platform engineer Victor Wang, the development team used Docker containers to help solve many users' real problems, whether it is the choice of GIAS all-in-one, or the use of existing servers, various cloud platforms, can deploy the analysis process.
    , in line with standards and Guidelines for The first version of Precision Medicine and Gene Sequencing in July 2017, the development team upgraded the GIAS platform to the 1/10 scale, especially in terms of analytical time, in line with standards and guidelines for The Standard and Guidelines for The Second Precision Medicine and Gene Sequencing Conference.
    integrates the letter tools, the GIAS platform of the large KDB database uses the annotation information of the major databases, and can automatically filter the massive variation and update it regularly.
    databases including NCBI dbSNP, 1000Genomes, OMIM, PharmGKB, Cosmi c and other authoritative databases.
    the platform integrates the massive multi-dimensional information such as disease, drug, characteristic, variable site and structural variation, corrects, de-redundancies, upgrades and normalizes the stored information, and carries on the weight rating according to ACMG standard, which provides clinically meaningful annotation information for the interpretation of variation.
    ALL in oneUnion file system: integrates different layers into a single file system and provides them with a unified perspective, enabling only one file system to exist from the user's perspective while optimizing multi-layer presence.
    in the GIAS data flow system, a job is broken down into a series of interdependent tasks, and The Sourd scheduler monitors the progress of the entire operation and the use of the entire system's resources, facilitates the deployment of cluster computer networks, improves reuse and maximum portability.
    multi-threaded task optimization GIAS make full use of the computing performance of hardware system, apply multithreaded parallel computing (multithreading) in multiple major data analysis algorithms, and differentiate parallel processing in computation and data volume, so as to realize the full adaptive utilization of CPU and RAM, accelerate analysis time, only 1/10 of the original analysis time.
    the graphical interface, easy-to-use GIAS platform using AIO full-graphic interface operation, integrated gene detection and analysis system, can meet customer hardware configuration and software installation needs, to achieve power-on.
    the basic development configuration of the platform is based on the CentOS 7 server system, using the Intel Xeon platform, ECC self-correcting memory, RAID independent redundant disk array storage system.
    currently only need a operating operator, can operate the system smoothly, fool-style operation, is the result of 23GENEBANK system development team dedicated.
    data analysis is a top priority in the sub-segment of genetic testing.
    first, from the functional level, platform products need to meet the basic needs of "customizable, visual operation, fully automatic report generation", and secondly, from the knowledge base, whether clinical, scientific research, or consumer-grade gene detection, how to extract silk from the massive variation information, looking for really meaningful disease-causing mutations is a difficult problem, so the complete knowledge base is the basis of platform construction.
    again, from the database update, scientific research to crawl the cutting-edge research, users choose the platform needs to be a long-term and need to maintain the data analysis platform.
    based on these three points, 23GENEBANK's GIAS platform is able to meet the needs of hospitals, research and related enterprises for genetic sequencing data analysis, thereby eliminating the time and cost of re-establishing bio-informatics analysis teams and conducting basic research and development.
    23GENEBANK23GENEBANK (China) is a national high-tech enterprise, is the domestic scientific research-grade gene detection service field leader.
    company is committed to the use of genetic data interpretation to improve human health, for researchers, clinicians, health institutions and individual consumers throughout the country to provide a comprehensive comprehensive and accurate health overall solutions, in independent intellectual property rights, scientific and technological research and development, results transformation, the proportion of researchers, business conditions, growth indicators and other links have demonstrated excellent strength.
    23GENEBANK (China) has become a member of the Global Society of Genomics and Health and was one of the first members of the China Gene Sequencing Technology and Industry Alliance, CSTIA.
    works with 375 leading organizations in the fields of healthcare, research, disease advocacy, life sciences and information science to establish industry technical standards and advance scientific and medical fields.
    23GENEBANK product research and development team members from the world's leading institutions of outstanding scientific research, team members in the world's leading journals published a total of more than 50 scientific research results, by peers more than 500 times, covering Nature, Science, Cell and other top journals.
    has built an excellent team of people with a cross-background of genetics, biology, computers, bio-information, mathematics, big data, and more, aiming to bring together the world's leading technologies to internationally accepted industrialization standards and serve Chinese groups.
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