Genomics Core Facility

NIDDK基因组学核心设施在成本回收的基础上向NIH内部社区提供下一代测序（NGS）服务，优先考虑NIDDK用户。支持这项技术的其他资源包括咨询服务、用户可访问的仪器、生物信息学基础设施和安全的数据管理。该设施生成的NGS数据用于研究项目感兴趣的疾病，例如糖尿病、代谢紊乱以及肝脏和胃肠道疾病。该技术的应用包括分析基因表达，确定DNA和RNA结合蛋白的靶点，鉴定与疾病相关的突变，以及表征表观遗传染色质修饰。 该设施在Illumina平台上提供高通量的下一代测序。用户负责样品制备。核心人员的支持包括实验设计的协助和图书馆建设的指导。该设施设有一个共享的仪器实验室，并为用户提供培训。仪器可用于样品剪切、自动染色质免疫沉淀、自动文库构建、文库质量评估和纯化以及实时qPCR。 用户向该机构提供库，并通过样本跟踪网站提交库信息。核心人员评估文库质量，进行测序，评估数据质量，并进行比对。数据通过安全FTP返回给用户。 用户负责进一步分析。核心提供了对NGS数据分析综合软件包的访问。如果时间允许，核心人员可能会在临时合作的基础上提供额外的生物信息学支持。

The NIDDK Genomics Core Facility provides next-generation sequencing (NGS) service on a cost-recovery basis to the NIH intramural community, with priority for NIDDK users. Additional resources in support of this technology included consultation services, user-accessible instrumentation, bioinformatics infrastructure, and secure data management. NGS data generated by the facility are used to study diseases of programmatic interest, such as diabetes, metabolic disorders, and liver and gastrointestinal diseases. Applications of the technology include the analysis of gene expression, the determination of targets for DNA and RNA-binding proteins, the identification of mutations relevant to disease, and the characterization of epigenetic chromatin modification. The facility offers high-throughput, next-generation sequencing on the Illumina platform. Users are responsible for sample preparation. Support from Core staff includes assistance with experimental design and guidance on library construction. The facility houses a shared instrumentation laboratory and provides training for users. Instruments are available for sample shearing, automated chromatin immunoprecipitation, automated library construction, library quality assessment and purification, and real-time qPCR. Users provide libraries to the facility, and submit library information via the sample tracking website. Core personnel assess library quality, perform sequencing, assess data quality, and perform alignment. Data is returned to users by secure FTP. Users are responsible for additional analysis. The Core provides access to integrated software packages for NGS data analysis. As time permits, additional bioinformatics support from Core personnel may be available on an ad hoc, collaborative basis.