CORE 4 - Genetics, Single Cell Sequencing and RNA seq Core

遗传学、单细胞测序和RNAseq核心 项目摘要/摘要-遗传学、单细胞测序和RNAseq核心。 遗传学、单细胞测序和RNAseq Core将为NORC调查人员提供访问和 协助基于下一代测序的最先进的分子方法。我们的主要目标是 使NORC调查人员能够使用该技术，这些调查人员可能没有资源或经验 充分发挥这些方法的优势。我们将采取两种相辅相成的方法。首先，我们将生成一个 图形用户界面，为NORC调查人员提供访问预计算测试数据库的权限 达拉斯心脏研究和达拉斯生物库中的遗传关联。NORC调查人员将询问 按基因(如基因符号或遗传标记)建立数据库，以识别与该基因或基因相关的特征 DHS中的标记)或根据表型来识别导致该表型的基因和突变。数据 来自全外显子组测序和全基因组微阵列的参与者都可以使用这两种方法 已经收集了与NORC调查人员相关的研究和表型数据。此资源将使NORC 研究人员将利用人类遗传学的独特优势来剖析 研究代谢途径，并确定这些途径的新成分。第二，我们将协助NORC 研究人员与他们的NGS相关实验的设计和解释。实验室分析将会是 由麦克德莫特中心测序核心执行。我们将专注于遗传学、单细胞测序和 RNAseq，因为到目前为止，这些方法是德克萨斯大学调查人员要求最广泛的服务 西南部。我们的具体目标是：1)协助NORC调查人员利用遗传关联和 孟德尔随机化和全基因组/外显子组测序；2)使NORC调查人员能够使用单一的- 细胞测序并提供结果分析；以及3)协助NORC调查人员设计和 以可靠、经济高效的方式解释RNAseq分析。

Genetics, Single-Cell Sequencing, and RNASeq Core PROJECT SUMMARY/ABSTRACT - Genetics, Single-Cell Sequencing, and RNASeq Core. The Genetics, Singe-Cell Sequencing, and RNASeq Core will provide NORC investigators with access to, and assistance with, state-of-the-art molecular methods based on Next Generation Sequencing. Our major goal is to make the technology accessible to NORC investigators who may not have the resources or experience to take full advantage of these methods. We will pursue two complementary approaches. First, we will generate a graphical user interface to provide NORC investigators with access to a database of precomputed tests for genetic association in the Dallas Heart Study, and the Dallas Biobank. NORC Investigators will query the database by genotype (e.g. a gene symbol or genetic marker) to identify traits associated with that gene or marker in the DHS), or by phenotype, to identify genes and mutations that contribute to that phenotype. Data from whole exome sequencing and whole genome microarrays is available for participants in both of these studies and phenotype data relevant to NORC investigators has been collected. This resource will enable NORC investigators to exploit the unique advantages of human genetics to dissect cause-effect relationships in metabolic pathways and to identify novel components of these pathways. Second, we will assist NORC investigators with the design and interpretation of their NGS-related experiments. Laboratory analyses will be performed by the McDermott Center Sequencing Core. We will focus on genetics, single-cell sequencing and RNASeq because these methods are by far the most widely requested services by investigators at UT Southwestern. Our Specific Objectives are: 1) Assist NORC Investigators to use genetic association and Mendelian Randomization and whole genome/exome sequencing; 2) Enable NORC investigators to use Single- cell sequencing and provide analysis of results; and 3) Assist NORC investigators with the design and interpretation of RNASeq analyses in a reliable, cost-effective manner.