Genetics Core

遗传学核心

• 批准号: 10629118
• 负责人: Carlos Cruchaga
• 金额: $ 27.26万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-07-01 至 2028-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10629118
• 关键词: Back; Biocompatible Materials; Bioinformatics; Biological Assay; Biological databases; Blood specimen; Brain; Clinical; Clinical/Radiologic; Collection; Communication; Communities; Complex; DNA; DNA Library; Data; Data Analyses; Data Set; Data Storage and Retrieval; Databases; Dedications; Development; Ensure; Feedback; Functional disorder; Future; Genes; Genetic; Genetic Databases; Genetic Variation; Genomics; Genotype; Goals; Human Genetics; Human Resources; Image; Link; Measurement; Measures; Neurological outcome; Operative Surgical Procedures; Outcome; Participant; Pathologic; Patients; Phenotype; Policies; Procedures; Process; Qualifying; Quality Control; Quality of life; Radiogenomics; Radiology Specialty; Research; Research Personnel; Risk; Saliva; Secure; Specimen; Standardization; Statistical Data Interpretation; Syringomyelia; United States National Institutes of Health; Variant; Work; biomarker signature; data repository; data sharing; data submission; design; endophenotype; exome sequencing; experimental study; follow-up; genetic information; genetic variant; genome wide association study; genomic data; improved; malformation; meetings; next generation sequencing; novel; phenotypic data; precision medicine; repository; trait; user-friendly; web site; web-based tool

PROJECT SUMMARY Abstract: Genetics Core Understanding the genetic basis of CM is a major goal of these projects. Since obtaining DNA from patients and generating large amounts of sequence data will require extensive computational, bioinformatic and statistical analyses, we have established a Genetics Core to serve these critical needs. In addition, this Core will provide a major data-storage and data-sharing function for both this PPG and for investigators worldwide. This Core will have three Specific Aims. Aim 1 will focus on performing all the NGS and analysis for this PPG. The Core personnel will work closely with Project investigators in the design of proposed experiments, and will provide standard analysis for each project. Critical to this application, the Genetics Core personnel will also provide data interpretation and additional follow-up data-driven iterative analyses as are often required. This will permit major increase in efficiency by having computational biologists dedicated to this PPG; will offer an iterative approach since analysis of NGS data is complex and experiment driven and will provide consistency regarding analytic approaches. We will guarantee data storage, management and transfer of genetic data. All relevant genomic results (those found to be predictive of CM or CM-related traits) will be transferred to a database maintained by the Clinical core, where they will be incorporated with phenotype/outcome data to generate a user-friendly interface that enables the simultaneous queries by PPG investigators of phenotype sequence variants, as well as other genes involved in CM. Lastly we will be focused on providing local and public data sharing. We will ensure that raw and analyzed sequencing data are submitted to stable repositories that are accepted by the research community and in accordance with NIH Data Sharing policy. Therefore, a major goal of the Genetics Core will be to expand public access to the generated genomic data by interactive public web tools. Within the last year of the PPG we will generate a public web site with a user-friendly interface that enables queries on genetic and phenotypic datasets simultaneously. Ultimately the Genetics core represents a central conduit for genomic and bioinformatics flow of data of this PPG therefore contributing significantly to further understanding the genetics basis of CM.

项目概要 摘要：遗传学核心 了解 CM 的遗传基础是这些项目的主要目标。自从从患者身上获取 DNA 以来 生成大量序列数据需要大量的计算、生物信息和统计 经过分析，我们建立了遗传学核心来满足这些关键需求。此外，该核心还将提供 该 PPG 和全世界研究人员的主要数据存储和数据共享功能。该核心将 有三个具体目标。目标 1 将侧重于执行该 PPG 的所有 NGS 和分析。核心 工作人员将与项目研究人员密切合作设计拟议的实验，并提供 每个项目的标准分析。对于该应用至关重要，遗传学核心人员还将提供数据 通常需要解释和额外的后续数据驱动的迭代分析。这将允许主要 通过让计算生物学家致力于此 PPG 来提高效率；将提供迭代方法 由于 NGS 数据的分析非常复杂且由实验驱动，并且将提供分析的一致性 接近。我们将保障遗传数据的存储、管理和传输。所有相关基因组 结果（那些被发现可以预测 CM 或 CM 相关性状的结果）将被转移到由 临床核心，将它们与表型/结果数据结合起来，生成用户友好的 PPG 研究人员还可以同时查询表型序列变异的界面 与 CM 相关的其他基因一样。最后，我们将专注于提供本地和公共数据共享。我们将 确保原始和分析后的测序数据提交到被认可的稳定存储库 研究社区并符合 NIH 数据共享政策。因此，遗传学的一个主要目标 核心是通过交互式公共网络工具扩大公众对生成的基因组数据的访问。内 PPG 的去年，我们将生成一个公共网站，该网站具有用户友好的界面，可以查询 同时获取遗传和表型数据集。最终，遗传学核心代表了一个中央管道 因此，该 PPG 的基因组和生物信息学数据流对进一步理解做出了重大贡献 CM 的遗传学基础。