NHGRI/DIR Microarray Core

NHGRI微阵列核心提供资源，具有成本效益和时间效益的服务，建议和技术支持，以满足NHGRI，NINDS和NIMH研究人员与基因组学研究相关的需求。这些服务主要集中在基因表达和基因分型技术。研究人员利用核心实验室提供的专业知识，协议和仪器。核心适应随时随着新技术的出现，并在执行实验室服务以及实验设计的援助。 在过去的一年中，基因表达服务主要是使用商业（Affytek，Agilent和Illumina）阵列提供的。然而，内部阵列可用于斑马鱼表达研究。 核心使用>1600个阵列（Affyscore、Agilent、Illumina和内部寡核苷酸芯片）提供表达分析。 研究人员利用表达服务（总RNA和microRNA）来深入了解各种人类疾病，包括尼曼-皮克病、C型（NPC）、黑色素瘤、子宫内膜癌、早衰综合征、II型糖尿病、血液恶性肿瘤和戈谢病。 我们还参与了免疫细胞特性和正常皮肤细菌植物群的表达研究。 此外，还对小鼠的疾病模型和发育变化进行了研究。 研究包括小鼠肺对尘螨的敏感性和神经胶质细胞迁移。 关于人类疾病，已经进行了各种研究，包括旨在理解与精神分裂症、自闭症和其他行为表型相关的表达谱的研究。 最后，今年还采用Array Core的基因表达技术研究了斑马鱼胚层发育，性别分化和毛细胞再生。 核心使用来自Affyteland和Illumina的基于SNP的微阵列技术来提供对全基因组关联（GWAS）研究至关重要的基因分型服务。这些服务被应用于与人类神经元疾病、癌症和糖尿病相关的各种研究。 此外，核心优化的SNP芯片技术与犬模型相关，因此进行了几项研究，以寻找控制物种间形态变异的基因，以及对各种形式癌症（包括胃癌、组织细胞肉瘤、膀胱移行细胞癌和鳞状细胞癌）的易感性。 仅狗的研究就涉及运行超过1,500个SNP芯片。 总之，NHGRI Array Core满足了三个研究所的多名研究人员对表达和基于SNP的基因分型研究的需求。 这项工作产生了一些出版物，核心工作人员被列为9个出版物的作者，并在其他几个出版物的引文中被引用。

The NHGRI Microarray Core provides resources, cost-effective and time-efficient services, advice and technical support to meet the needs of NHGRI, NINDS, and NIMH investigators related to genomics research. The services primarily focus on gene expression and genotyping technologies. Researchers utilize the expertise, protocols and instrumentation available in the Core laboratory. The Core adapts readily as new technologies emerge, and aids in both performing laboratory services as well as experimental design. In the past year gene expression services were provided using mostly commercial (Affymetrix, Agilent and Illumina) arrays. In-house arrays, however, were available for zebrafish expression studies. The Core provided expression analysis using >1600 arrays (Affymetrix, Agilent, Illumina and In-house oligos chips). The investigators utilized the expression services (total RNA and microRNAs) to gain insight into a variety of human disease conditions, including Niemann-Pick disease, type C (NPC), melanoma, endometrial cancer, Progeria syndrome, type II diabetes, blood malignancies, and Gaucher disease. We have also been involved in expression studies of immune cell characterization and normal skin bacterial flora. In addition, studies of disease models and developmental changes in the mouse have been done. Studies include mouse lung sensitivity due to to dust mites, and glial cell migration. With regard to human disease a variety of studies have been done including those aimed at understanding expression profiles associated with schizophrenia, autism and other behavioral phenotypes. Finally, zebrafish germ layer development, sex differentiation, and hair cell regeneration have also studied this year employing the gene expression technologies of the Array Core. SNP-based microarray technologies from Affymetrix and Illumina were used by the Core to provide genotyping services critical for genome wide association (GWAS) studies. These services were applied for a variety of studies related to human neuronal diseases, cancer, and diabetes. In addition, the core optimized SNP chip technologies related to the canine model, and as a result several studies were undertaken to find genes that control morphologic variation across the species, as well as breed susceptibility to various forms of cancer including gastric, histocytic sarcoma, transitional cell carcinoma of the bladder, and squamous cell carcinoma. The dog studies alone involved running over 1,500 SNP chips. In summary, the NHGRI Array Core has met the needs to multiple investigators in three Institutes for both expression and SNP-based genotyping studies. A number of publications arose from this work and Core staff have been listed as authors on nine and cited in the acknowledgements of several others.