Core B: Molecular/Analytic Core

核心 B：分子/分析核心

• 批准号: 8931772
• 负责人: Inga Peter
• 金额: $ 34.43万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8931772
• 关键词: Age; Bioinformatics; Biological; Biological Process; Biology; Characteristics; Clinical; Computers; Congenital Abnormality; Craniosynostosis; DNA; Data; Data Analyses; Data Base Management; Data Quality; Data Set; Data Storage and Retrieval; Databases; Deposition; Disease; Future; Gene Chips; Gene Expression Profiling; Generations; Genes; Genetic; Genomics; Genotype; Human; Image; Image Analysis; Individual; Institutes; Link; Measurement; Measures; Mining; Molecular; Pathogenesis; Pathway interactions; Patients; Phenotype; Preparation; Process; Quality Control; Records; Risk; Sampling; Scanning; Secure; Severities; Signal Transduction; Site; Statistical Data Interpretation; Syndrome; System; Technology; base; cost; craniofacial; data integration; data sharing; exome sequencing; genetic information; genome wide association study; genome-wide; genomic data; imaging genetics; imaging modality; indexing; medical schools; meetings; next generation; novel strategies; prevent; programs; rare variant; relational database; sex; tomography; tool

ABSTRACT New approaches are being developed to maximally integrate information from the data generated using "omics" technologies to uncover pathways involved in disease pathogenesis. In this program project, we will take advantage of state-of-the-art molecular and analytic tools through well-integrated Projects and Cores to better understand how biological processes are defined at the molecular level, how they can be disrupted to cause nonsyndromic coronal craniosynostosis, and how we can assess the risk of and intervene to prevent this birth defect. Molecular/Analytic Core B objective is to generate high quality genomic and imaging data and provide analytic support for all three Projects to allow comprehensive integrative analyses for the Craniosynostosis Network. The Molecular/Analytic Core will fulfill five major tasks: 1) to generate and quality- control high- and medium throughput genetic and genomic data to be used by Projects II and III; 2) to generate analyzable morphometric craniofacial data from pre-operational computer tomography (CT) scans; 3) to integrate clinical information obtained from the participating sites with imaging and genetic/genomic data and organize them so that they meet the needs of different Projects, 4) to provide general and specialized statistical support to Project I and Project II, and 5) to facilitate the selection of the top genetic signals observed across all Projects within the Craniosynostosis Network for the replication study. DNA samples will be processed and analyzed using the Illumina HumanOmniExpressExome high throughput genotyping chip, whole exome sequencing, and medium throughput genotyping for the replication studies in the DNA core at Icahn School of Medicine at Mount Sinai. CT images will be processed to generate craniofacial measurements and craniosynostosis severity scores to be used for association studies and to select most informative individuals for sequencing. Genomic and imaging data will be quality-controlled and linked with the phenotype data obtained from the participating sites. The Molecular/Analytic Core will also facilitate bioinformatics and statistical analyses pertinent to each project, including gene expression analysis, rare variant analysis, genome-wide association studies, pathway-based analysis, and replication studies by generating appropriate dataset formats and disseminating results obtained by each project. In addition, the Molecular/Analytic Core will be responsible for data storage and integration across the Projects and Cores, as well as dataset preparation for future data deposition and sharing.

抽象的 正在开发新方法，以最大程度地整合使用的信息 “ OMICS”技术可发现涉及疾病发病机理的途径。在这个程序项目中，我们将 通过良好的项目和核心利用最先进的分子和分析工具 更好地了解如何在分子层定义生物过程，如何破坏它们 引起非冠状动脉颅颅颅骨伴随术，以及我们如何评估和干预的风险以防止这种风险 先天缺陷。分子/分析核心B目标是生成高质量的基因组和成像数据，以及 为所有三个项目提供分析支持，以允许对 颅突式网络。分子/分析核心将完成五个主要任务：1）生成和质量 - 控制项目II和III使用的高和中吞吐量遗传和基因组数据； 2）生成 术前计算机断层扫描（CT）扫描中可分析的形态颅面数据； 3）到 将从参与站点获得的临床信息与成像和遗传/基因组数据以及 组织它们以使它们满足不同项目的需求，4）提供一般和专业的 对项目I和项目II和5）的统计支持，以促进观察到的顶级遗传信号的选择 在复制研究的颅骨症网络中的所有项目中。 DNA样品将是 使用Illumina Handomniexpressexom高吞吐量基因分芯片进行处理和分析， 整个外显子组测序和中等吞吐基因分型，用于在DNA核心的复制研究 西奈山的伊坎医学院。将处理CT图像以生成颅面测量 和颅突的严重程度评分用于关联研究并选择最有用的信息 进行测序的个体。基因组和成像数据将是质量控制的，并与表型联系在一起 从参与站点获得的数据。分子/分析核心还将促进生物信息学和 与每个项目有关的统计分析，包括基因表达分析，稀有变体分析， 全基因组关联研究，基于途径的分析和复制研究，通过产生适当的 数据集格式和传播每个项目获得的结果。另外，分子/分析核心 将负责项目和核心的数据存储和集成以及数据集 准备将来的数据沉积和共享。