NHGRI/DIR Genomics Core

基因组学核心提供服务，以满足与基因组学相关的NHGRI调查人员的需求。这些服务主要包括基因表达和基因分型服务，但也在一定程度上提供测序和物理绘图（获取DNA样本组和基因组克隆库）服务。基因表达服务也扩展到NIMH和NINDS的内部研究人员。研究人员利用核心实验室提供的技术、专业知识和仪器进行各种研究。核心随时适应新技术的出现。 基因表达服务使用内部打印的寡核苷酸阵列以及商业（Affyphon）阵列提供。 内部阵列用于人类、小鼠和斑马鱼的表达研究，而商业阵列也可用于其他物种。 截至2008财年，Core已为总计1，600个阵列（Affytrix和oligos）提供了表达服务。 研究人员利用这些表达服务来深入了解各种人类疾病，包括乳腺癌、黑色素瘤、嗜铬细胞瘤、1型多发性内分泌瘤、早衰综合征、II型糖尿病和戈谢病。此外，还采用基因表达技术研究了小鼠（肺对灰尘的敏感性，神经胶质细胞迁移），大鼠（脊髓再生）和斑马鱼（胚层发育）的疾病模型和发育变化。 基于STRP和SNP的技术都被用于核心，为50多项不同的研究提供基因分型服务。SNP基因分型使用高密度阵列提供，用于Affyandria和Illumina平台。 基因分型服务被用于与人类疾病有关的各种研究，以及人类疾病的小鼠和狗模型。对三种人类缺失综合征（WAGR、SMS和2q缺失综合征）进行基于STRP的基因分型，鉴定了最小缺失间隔、缺失的亲本来源及其与特征性临床表型的关联.与未知基因座的连锁（或排除已知基因座）在许多多指（趾）畸形家族中进行。除了疾病位点，小鼠基因分型项目还包括诸如识别移植匹配、快速同源作图、特定表型的位点作图等应用。 全基因组和后续的精细定位导致了四个小鼠神经嵴突变体的基因鉴定，这是大规模ENU处理的遗传筛选的一部分。高密度SNP阵列被用于鉴定与连锁研究（储存池缺陷）、卵巢癌和乳腺癌中拷贝数变异以及卵巢癌中甲基化研究的连锁。 基于SNP的基因分型也被用于绘制负责前列腺癌的基因以及狗基因组中的品种特异性表型。

The Genomics Core provides services to meet the needs of the NHGRI investigators related to Genomics. These include primarily gene expression and genotyping services, however, sequencing and physical mapping (access to DNA panels and genomic clone libraries) services are also provided to some extent. The gene expression services are also extended to intramural researchers from NIMH and NINDS. Researchers utilize the technology, expertise and the instrumentation available in the Core labs, for a variety of studies. The Core adapts readily as the new technologies emerge. The Gene expression services are provided using either in-house printed oligo arrays as well as commercial (Affymetrix) arrays. The in-house arrays are for human, mouse and zebrafish expression studies, where as the commercial arrays are available for other species as well. Through the FY2008, the Core has provided expression services for a combined total of 1,600 arrays (Affymetrix and oligos). The investigators utilized the expression services to gain insight into a variety of human disease conditions, which include breast cancer, melanoma, Pheochromocytoma, multiple endocrine neoplasia type 1, Progeria syndrome, type II diabetes and Gaucher disease. In addition, disease models and developmental changes in mouse (lung sensitivity to dust mice, glial cell migration), rat (spinal cord regeneration) and zebrafish (germ layer development) were also studied employing the gene expression technologies. Both the STRP- and SNP-based technologies were employed in the core to provide genotyping services for more than 50 different studies. SNP genotyping is provided using high-density arrays for both Affymetrix and Illumina platforms. Genotyping services were employed for a variety of studies related to human diseases, as well as for mouse and dog models for human diseases. STRP- based genotyping carried out for three human deletion syndromes, WAGR, SMS and 2q deletion syndrome, resulted in identification of the minimal deletion intervals, parental origin of the deletions, and their association with characteristic clinical phenotypes. Linkage to unknown loci (or exclusion of known loci) was carried out in a number of families with Polydactyly. In addition to disease loci, the mouse genotyping projects included applications such as identifying transplant matches, speed congenics mapping, mapping for loci for specific phenotypes. Whole genome and the follow-up fine mapping have lead to the identification of genes for four mouse neural crest mutants, part of a large-scale ENU-treated genetic screen. High-density SNP arrays were used to identify linkage to for a linkage studies (storage pool deficiency), copy number variation in ovarian and breast cancer, and methylation studies in ovarian cancer. SNP-based genotyping was also employed for mapping genes responsible for prostate cancer as well to breed-specific phenotypes in dog genome.