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.

项目摘要 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。从病人身上获取DNA， 产生大量的序列数据将需要大量的计算、生物信息学和统计学。 为了满足这些关键需求，我们建立了一个遗传学核心。此外，该核心将提供 这是PPG和全球研究者的主要数据存储和数据共享功能。这一核心将 有三个具体目标。目标1将侧重于执行本PPG的所有NGS和分析。核心 人员将与项目研究人员密切合作，设计拟议的实验，并将提供 每个项目的标准分析。对于这一应用至关重要的是，遗传学核心人员还将提供数据， 解释和额外的后续数据驱动的迭代分析，因为往往需要。这将使少校 通过让计算生物学家致力于该PPG来提高效率;将提供迭代方法 由于对NGS数据分析是复杂的，是由实验驱动的， 接近。我们将保证遗传数据的存储、管理和转移。所有相关基因组 结果（发现可预测CM或CM相关性状的结果）将被转移到由 临床核心，其中它们将与表型/结果数据相结合，以生成用户友好的 界面，使PPG研究者能够同时查询表型序列变异，以及 与其他参与CM的基因一样。最后，我们将专注于提供本地和公共数据共享。我们将 确保将原始和分析的测序数据提交给稳定的储存库， 研究社区和根据NIH数据共享政策。因此，遗传学的一个主要目标 核心将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 在PPG的最后一年，我们将创建一个公共网站，该网站具有用户友好的界面，可以查询 遗传和表型数据集同时进行。最终，遗传学核心代表了一个中心管道， 因此，该PPG的基因组和生物信息学数据流显著有助于进一步理解 CM的遗传学基础。