NHGRI/DIR Genomics Core

基因组学核心提供服务，以满足NHGRI研究人员与基因组学相关的需求。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制图（获取DNA面板和基因组克隆文库）服务。基因表达服务也扩展到NIMH和NINDS的校内研究人员。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。随着新技术的出现，核心可以随时适应。

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.