Collaborative Research: ABI Sustaining: The National Center for Genome Analysis Support

基因组研究是理解生命变异性、生物功能、种群动态以及生物体如何应对外部影响的关键和快速增长的组成部分。基因组学从质量上提高了我们研究生物动力学的能力，并做出了重要的发现，这些发现是理解环境变化、发展和保护作物以及改善健康结果等主题的基础。然而，基因组分析对于实践生物学家来说可能是一个重大挑战。许多需要从事基因组科学的生物学家在相关分析工具方面不够专业，或者从测序仪生成的初始数据到具有生物学意义的分析结果所需的复杂工作流程。此外，许多人无法获得处理和管理基因组学数据所需的先进计算和大规模存储资源。国家基因组分析支持中心（NCGAS）通过提供由专家生物信息学咨询和教育服务组成的综合服务，通过易于使用的基于web的工作流管理工具、先进的计算系统和大规模数据存储和出版设施提供的强化和优化的软件来解决这些挑战。NCGAS的服务在使小型机构和其他无法获得自身资源的团体的研究人员作出重要贡献方面尤为重要。NCGAS通过以下目标来完成其使命，使美国生物研究界能够分析、理解和利用现有的大量基因组信息：为从事转录组和基因组水平组装领域研究的生物学家提供优秀的生物信息学咨询服务；在国家网络基础设施（CI）系统上提供基因组组装和分析软件，并提供下载和安装校园CI资源的工具；提供基因组分析方面的培训、教育和推广计划；提高生物信息学软件的质量和功能；支持使用专门为支持基因组分析而设计的大内存计算集群；并提供存储和分发基因组研究数据和产品的机制。这些努力将促进和加速利用NCGAS服务的研究人员的科学发现，降低科学家创建、执行、记录和共享基因组学分析的障碍，帮助确定一流的基因组学分析软件，并为社区提供这些软件的改进版本，提高实践科学家的技术素养，并帮助发展生物信息学劳动力。该项目的结果将在https://ncgas.org和https://github.com/NCGAS.This上公布。该奖项反映了美国国家科学基金会的法定使命，并通过基金会的智力价值和更广泛的影响审查标准进行评估，认为值得支持。

The study of genomes is a critical and rapidly growing component in understanding the variability of life, biological functions, population dynamics, and how organisms respond to external influences. Genomics has qualitatively improved our ability to investigate biological dynamics and to make important discoveries that are the foundations for understanding topics such as environmental change, developing and protecting crops, and improving health outcomes. Genome analysis, however, can be a significant challenge for the practicing biologist. Many biologists who need to undertake genome science are not sufficiently expert in the relevant analytical tools, or the complex workflows required to get from the initial data generated by sequencers to a biologically-meaningful analyzed result. In addition, many do not have access to the advanced computing and large-scale storage resources required for processing and managing genomics data. The National Center for Genome Analysis Support (NCGAS) addresses these challenges by providing an integrated service comprised of expert bioinformatics consulting and educational services, hardened and optimized software available through easy-to-use web-based workflow management tools, advanced computing systems, and large scale data storage and publishing facilities. NCGAS services are particularly important in enabling important contributions from researchers from smaller institutions and other groups with limited access to their own resources.NCGAS works through the following goals to fulfill its mission to enable the biological research community of the US to analyze, understand, and make use of the vast amount of genomic information now available: provide excellent bioinformatics consulting services to biologists doing research in the areas of transcriptome- and genome-level assembly; deliver genome assembly and analysis software on national cyberinfrastructure (CI) systems and provide tools for download and installation on campus CI resources; provide training, education, and outreach programs on genome analysis; improve the quality and functionality of bioinformatics software; enable the use of large-memory compute clusters designed specifically to support genome analysis; and provide mechanisms to store and distribute genome research data and products. These efforts will enable and accelerate scientific discoveries by researchers who make use of NCGAS services, lower barriers for scientists to create, execute, document, and share genomics analyses, help identify best-in-class genomics analysis software and provide improved versions of these software to the community, enhance the technology literacy of practicing scientists, and help grow the bioinformatics workforce. Outcomes of this project will be made available at https://ncgas.org and https://github.com/NCGAS.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.