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

CORE 4 - 遗传学、单细胞测序和 RNA seq 核心

基本信息

批准号：
10657787
负责人：
JONATHAN Charles COHEN
金额：
$ 16.4万
依托单位：
UT SOUTHWESTERN MEDICAL CENTER
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-07-01 至 2027-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10657787
关键词：
Address Biological Cells Communities Core Facility DNA Sequencing Facility Data Databases Dedications Equipment Familiarity Funding Genes Genetic Genetic Markers Genotype Goals Heart Human Genetics Human Resources Individual Instruction Laboratories Medical center Mendelian randomization Metabolic Metabolic Diseases Metabolic Pathway Methods Molecular Mutation Participant Pathway interactions Phenotype Procedures Protocols documentation Recovery Research Personnel Resources Sampling Scientist Services Suggestion Technology Testing United States National Institutes of Health biobank cost cost effective database query design exome exome sequencing experience experimental study genetic association genome sequencing genome wide association study graphical user interface next generation sequencing novel nutrition phenotypic data public database response single cell sequencing success tool trait transcriptome sequencing whole genome

项目摘要

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.

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核心将为NORC研究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调查人员可以访问该技术，他们可能没有资源或经验这些方法的全部优势。我们将采用两种补充方法。首先，我们将生成一个图形用户界面可为NORC调查人员提供对预先计算测试数据库的访问达拉斯心脏研究和达拉斯生物库中的遗传关联。 NORC调查人员会查询基因型数据库（例如基因符号或遗传标记），以识别与该基因或该基因相关的特征 DHS中或通过表型中的标记，以识别有助于该表型的基因和突变。数据从整个外显子组测序和整个基因组微阵列都可以为参与者提供这两个已经收集了与NORC研究者相关的研究和表型数据。此资源将使NORC 研究人员利用人类遗传学的独特优势来剖析因果关系代谢途径并确定这些途径的新成分。第二，我们将协助NORC 研究和解释其与NGS相关的实验的研究和解释。实验室分析将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是因为这些方法是UT的调查人员最广泛要求的服务西南。我们的具体目标是：1）协助NORC研究人员使用遗传关联和孟德尔随机化和整个基因组/外显子组测序； 2）使NORC调查人员使用单一细胞测序并提供结果分析； 3）协助NORC调查人员进行设计和以可靠的，具有成本效益的方式解释RNASEQ分析。