Developmental Genomics Core

核心D 发展基因组学核心(核心D)是由以下机构创建的DAB MRRC的新组成部分 整合来自三个现有小组的资源-GCRC基因组核心实验室， 赫夫林人类遗传学中心和遗传学系医学基因组实验室- 能够扩大活动范围和对核心的支持。人类的完成 基因组序列已经揭示了人类基因的完整补充，但其中大多数的功能 基因及其RNA或蛋白质产物仍然未知。仔细研究相关的表型 人类遗传性疾病提供了一个重要的机会，通过记录 整个基因组中与序列变化相关的表型。实现这一目标需要 为标准化表型评估和数据存储提供工具.对患者DNA进行基因分型 已知基因的变异；以及新表型基因的发现。发展中的 基因组学核心将有助于更完整地描述人类基因的功能 并将增强研究人员将他们的研究成果转化为 临床应用。具体服务将包括：临床研究协调：协助收集 临床信息和DNA或组织样本。这包括协调患者和家属的招募， 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：为候选基因座的遗传连锁分析或突变筛选提供基因分型服务。 服务包括实验设计咨询、基因分析和数据解释；以及 翻译基因组学：临床分子遗传学诊断分析的发展 在CLIA许可的临床实验室中进行。这减轻了研究实验室对 临床测试，同时保持研究人员对表型-基因相关性样本的访问 学习。

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.