Developmental Genomics Core

内核D 发育基因组学核心（核心D）是DAB MRRC的一个新组成部分， 整合现有三个小组的资源-GCRC基因组学核心实验室， 海夫林人类遗传学中心和遗传学系医学基因组学实验室- 从而能够扩大活动范围和对核心的支持。人类的完成 基因组测序揭示了人类基因的全部组成，但其中大多数基因的功能 基因及其RNA或蛋白质产物仍然未知。仔细研究相关的表型 与人类遗传性疾病提供了一个重要的机会，注释基因组序列， 与整个基因组序列变化相关的表型。实现这一目标需要 提供用于标准化表型评估和数据存储的工具; 已知基因的变异;以及发现导致新表型的基因。发育 基因组学核心将有助于更完整地表征参与人类基因的功能， 发展障碍，并将提高研究人员将其研究结果转化为 临床应用具体服务包括：临床研究协调：协助收集 临床信息和DNA或组织样本。这包括协调病人和家属的招募， 建立和维护表型数据库，以及DNA和组织的收集和储存; 基因分型：用于遗传连锁分析或候选基因座突变筛查的基因分型服务。 服务包括实验设计、基因型分析和数据解释咨询;以及 翻译基因组学：临床分子遗传学诊断分析的发展， 在CLIA许可的临床实验室进行。这减轻了研究实验室对 临床测试，同时保持研究人员获得样本的表型-基因型相关性 study.

Core D The Developmental Genomics Core (Core D) represents a new component of the DAB MRRC created by integrating the resources from three existing groups - the Genomics Core Laboratory of the GCRC, the Heflin Center for Human Genetics, and the Medical Genomics Laboratory of the Department of Genetics - enabling an increase in the scope of activities and support to the core. The completion of the human genome sequence has revealed the full complement of human genes, but the function of most of these genes and their RNA or protein products remains unknown. Careful study of the phenotypes associated with human genetic disorders offers a major opportunity to annotate the genome sequence by documenting the phenotypes associated with sequence changes throughout the genome. Achieving this goal requires provision of tools for standardized phenotypic assessment and storage of data; genotyping patient DMA for variation in known genes; and discovery of genes responsible for novel phenotypes. The Developmental Genomics Core will facilitate a more complete characterization of the function of human genes involved in developmental disorders and will enhance the ability of investigators to translate their research findings to clinical application. Specific services will include: Clinical Study Coordination: Assistance with collection of clinical information and DNA or tissue samples. This includes coordination of patient and family recruitment, creation and maintenance of phenotypic databases, and DNA and tissue collection and storage; Genotyping: Genotyping services for genetic linkage analysis or mutation screening of candidate loci. Services include consultation on experimental design, genotypic analysis, and data interpretation; and Translational Genomics: Development of clinical molecular genetic diagnostic assays that can be performed in a CLIA-licensed clinical laboratory. This relieves the research laboratory of the demand for clinical testing while maintaining the researcher's access to samples for phenotype-genotype correlation study.