Genomic Analysis and Statistical Core

项目摘要 核心B也将确定和招募患者，如第1周期，并确定临床和表型 分类，这是关键的项目1，2和3。核心B还将收购和管理所有生物制品 方案的资源。目标是招募适当的PH患者和家庭成员， 表征表型并获得进行该计划所有研究所需的标本， 中心总体目标是了解导致PAH的致病机制，以促进 开发新型转化疗法。正在进行的患者和家庭招募、表型分析和 抽样对于整个计划的成功至关重要。表型变异与基因型变异的比较 本项目中提出的组学分析需要最大的可用队列，以便提供 每个子集中的最佳功率。还需要进一步征聘，以加强 基因型表型相关性的发现，例如在表达定量基因座（eQTL）作图中 本申请中提出的。核心B将确保通过修订生成高质量的分析 和完善信息学管道，并制定可 适用于拟议项目。基因组学的最新进展导致了大量的 各种各样的分子数据。分析复杂、高维数据的统计方法 统计技术不断发展，需要掌握先进的统计技术。核心B人员和设施 将履行以下主要职能：1.确定; 2例招募; 3例表型分析; 4例数据库录入和 维护; 5标本采集和储存; 6标本检索和分发; 7生物统计 和生物信息学。

PROJECT SUMMARY Core B will also ascertain and recruit patients, as in cycle 1, and establish the clinical and phenotypic classifications which are pivotal for Projects 1, 2 and 3. Core B will also acquire and manage all of the biologic resources for the Program. The goal is to recruit appropriate PH patients and members of families, to characterize the phenotypes and obtain the specimens needed to conduct all studies of the program, with the central overall objective to understand the pathogenic mechanisms that contribute to PAH to facilitate the development of novel translational therapies. Ongoing patient and family recruitment, phenotyping and sampling are vital to the overall program success. Comparisons of phenotypic variation with genotypic variation and the Omics analyses proposed in this project require the largest cohort available, in order to provide the best possible power in each individual subset. Further recruitment is also needed to strengthen the power for discovery for genotype phenotype correlations such as in expression quantitate locus (eQTL) mapping proposed in this application. Core B will ensure the generation of high quality analyses through the revision and refinement of the informatics pipelines and the development of statistical methodologies that can be applied to the proposed project. Recent advances in genomics have led to the generation of massive quantities of a diverse range of molecular data. Statistical methods for analyzing the complex, high-dimensional data continue to evolve and require knowledge of advanced statistical techniques. Core B personnel and facilities will perform the following key functions: 1. Ascertainment; 2 Recruitment; 3 Phenotyping; 4 Database entry and maintenance; 5 Specimen acquisition and storage 6 Specimen retrieval and distribution; and 7 Biostatistics and bioinformatics.