Genetics Core

项目总结 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。因为从病人身上获取DNA 生成大量的序列数据将需要大量的计算、生物信息学和统计学 通过分析，我们已经建立了一个遗传学核心来满足这些关键需求。此外，这一核心将提供 这是PPG和世界各地调查人员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将专注于执行此PPG的所有NGS和分析。《核心》 人员将与项目调查人员密切合作，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，Genetics核心人员还将提供数据 解释和其他后续数据驱动的迭代分析是经常需要的。这将允许少校 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 因为NGS数据的分析是复杂的和实验驱动的，并将提供关于分析的一致性 接近了。我们将保障基因数据的数据存储、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相关特征的结果)将被转移到由 临床核心，它们将与表型/结果数据结合在一起，以生成用户友好的 允许PPG调查人员同时查询表型序列变体的接口 与其他与CM有关的基因一样。最后，我们将侧重于提供本地和公共数据共享。我们会 确保将原始和分析后的测序数据提交到稳定的存储库 研究社区，并根据NIH数据共享政策。因此，遗传学的一个主要目标 核心将是扩大公众对通过交互式公共网络工具产生的基因组数据的获取。在 在去年的PPG中，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 同时建立遗传和表型数据集。最终，Genetics的核心代表了 因此，该PPG的基因组和生物信息学数据流动有助于进一步了解 CM的遗传学基础。

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.