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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：
10512736
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/10512736
关键词：
Address Biological Cells Communities Core Facility DNA Sequencing Facility Data Databases Equipment Familiarity Funding Gene Mutation 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 Participant Pathway interactions Phenotype Procedures Protocols documentation Recovery Research Personnel Resources Sampling Scientist Services Suggestion Technology Testing United States National Institutes of Health base 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核心项目概要/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，基于下一代测序的最先进的分子方法的协助。我们的主要目标是使那些可能没有资源或经验的NORC调查人员能够使用该技术充分利用这些方法。我们将采取两种相辅相成的办法。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，在达拉斯心脏研究和达拉斯生物样本库中的基因关联。NORC调查人员将询问基因型数据库（例如基因符号或遗传标记），以识别与该基因相关的性状，或 DHS中的标记）或通过表型，以鉴定促成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数据，已收集了与NORC研究者相关的研究和表型数据。该资源将使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 研究人员与他们的NGS相关实验的设计和解释。实验室分析将由麦克德莫特中心测序核心进行。我们将专注于遗传学，单细胞测序和 RNASeq，因为这些方法是迄今为止UT研究人员最广泛要求的服务西南部我们的具体目标是：1）协助NORC研究人员使用遗传关联，孟德尔随机化和全基因组/外显子组测序; 2）使NORC研究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研究人员进行设计， RNASeq分析以可靠的、具有成本效益的方式进行解释。