NHGRI/DIR Scientific Computing

NHGRI/DIR 科学计算

• 批准号: 10022475
• 负责人: Andreas Baxevanis
• 金额: $ 261.38万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10022475
• 关键词: Archives; Behavioral Research; Bioinformatics; Biological; Biometry; Clinical; Clinical Protocols; Clinical Research; Computer Systems; Computer software; DNA Sequence; Data; Data Analyses; Databases; Detection; Development; Diagnosis; Environment; Genetic Diseases; Genetic Research; Genomics; Health Insurance Portability and Accountability Act; Heritability; High Performance Computing; Human Genetics; Information Systems; Intramural Research; Laboratories; Memory; Methods; National Human Genome Research Institute; Online Systems; Pathway Analysis; Prevention; Protein Sequence Analysis; Public Domains; Research; Research Personnel; Resources; Running; Scientist; Sequence Analysis; Structure; Translating; Translational Research; United States National Institutes of Health; Variant; clinical database; computer infrastructure; computerized tools; computing resources; data visualization; data warehouse; genetic pedigree; genome sequencing; genome wide association study; genome-wide analysis; genomic data; high end computer; innovation; molecular modeling; programs; scientific computing; single cell analysis; terabyte; tool; whole genome

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).

NHGRI 校内研究部为专业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部门的基因组、生物信息学、临床和行为研究的广泛计划，旨在将基因组和遗传学研究转化为对人类遗传病的更深入的了解，以及开发更好的检测、预防和治疗方法。治疗遗传性和遗传性疾病。 NHGRI/DIR 维护着多个高端计算机系统，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要求。该部门还为其全基因组测序、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中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会生成大量数据（大约 TB 级），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，能够跟上不断增长的数据的步伐。大规模生物和生物医学数据的生成速度。 NHGRI/DIR 维护着一套广泛的商业和公共领域软件，用于满足 NHGRI 调查人员的广泛需求。该列表包括用于 DNA 和蛋白质序列分析、分子建模、表达分析（包括单细胞分析）、通路分析、生物统计学以及全基因组关联研究生成的数据分析的软件。此外，认识到为 NHGRI 科学家提供强大的数据库以支持其临床研究工作的重要性，我们向所有进行临床方案的 NHGRI 研究人员提供了一个基于 Web 且符合 HIPAA 的数据库，其中包含集成谱系查看器和 SQL 查询工具旨在了解多种人类遗传疾病的潜在机制。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。