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中文摘要
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NHGRI校内研究部为专门的研究计算维护着强大的计算基础设施。提供这些资源是为了支持该司广泛的基因组、生物信息学、临床和行为研究计划,旨在将基因组和基因研究转化为对人类遗传病的更好了解,并开发更好的方法来检测、预防和治疗可遗传和遗传疾病。 NHGRI/DIR维护着几个高端计算机系统,以支持最先进的计算序列分析、结构分析、数据可视化和类似的内存密集型科学计算需求。该司还为其在全基因组测序、全基因组关联研究、临床变异发现和类似类型的全基因组分析方面的高通量研究工作提供重要的计算支持。这些方法在一次运行中生成了大量数据(以TB计),因此需要强大的数据库解决方案、创新的存储和归档策略以及可靠的高性能计算环境,该环境可以跟上生成大规模生物和生物医学数据的不断增长的速度。 NHGRI/DIR维护着一套广泛的商业和公共领域软件,用于处理NHGRI调查人员的广泛需求。该清单包括用于DNA和蛋白质序列分析、分子建模、表达分析(包括单细胞分析)、途径分析、生物统计学和分析全基因组关联研究产生的数据的软件。此外,认识到为NHGRI科学家提供强大的数据库以支持他们的临床研究工作的重要性,所有NHGRI研究人员都可以使用基于Web的、符合HIPAA标准的数据库,以及集成的谱系查看器和SQL查询工具,这些研究人员正在执行旨在了解各种人类遗传疾病的潜在机制的临床协议。该临床数据库的功能允许从NIH临床中心的临床研究信息系统(CRIS)数据仓库和NIH的生物医学翻译研究信息系统(BTRIS)自动导入临床实验室数据。
英文摘要
The NHGRI Division of Intramural Research maintains a robust computational infrastructure for specialized research computing. These resources are provided to support the Division's broad program of genomic, bioinformatic, clinical, and behavioral research aimed at translating genomic and genetic research into a greater understanding of human genetic disease, as well as towards developing better methods for the detection, prevention, and treatment of heritable and genetic disorders. NHGRI/DIR maintains several high-end computer systems to support state-of-the-art computational sequence analysis, structure analysis, data visualization, and similar memory-intensive scientific computing requirements. The Division also provides significant computational support for its high-throughput research efforts in whole-genome sequencing, whole-genome association studies, clinical variant discovery, and similar types of genome-wide analyses. These approaches generate enormous amounts of data (on the order of terabytes) in a single run, thereby requiring strong database solutions, innovative storage and archiving strategies, and a reliable high-performance computing environment, one that can keep pace with the ever-increasing rate at which large-scale biological and biomedical data are being generated. NHGRI/DIR maintains an extensive suite of commercial and public domain software for handling the wide range of needs of NHGRI investigators. The list includes software for DNA and protein sequence analysis, molecular modeling, expression analysis (including single-cell analysis), pathway analysis, biostatistics, and the analysis of data being generated by whole-genome association studies. In addition, realizing the importance of providing NHGRI scientists with a robust database in support of their clinical research efforts, a Web-based and HIPAA-compliant database with an integrated pedigree viewer and SQL querying tool is made available to all NHGRI investigators conducting clinical protocols aimed at understanding the underlying mechanisms of a wide variety of human genetic disorders. This clinical database's functionality allows for the automated import of clinical laboratory data from the NIH Clinical Center's Clinical Research Information System (CRIS) data warehouse and from NIH's Biomedical Translation Research Information System (BTRIS).
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NHGRI/DIR Scientific Computing
NHGRI/DIR Bioinformatics and Scientific Programming Core
NHGRI/DIR Education and Outreach Programs
NHGRI/DIR Bioinformatics and Scientific Programming Core
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