Biostatistics and Bioinformatics

摘要 该计划项目的总体目标，“气道疾病的系统生物学”，是确定共同的 哮喘和COPD的分子决定因素和途径。这些决定因素将通过 使用各种各样的分子数据- DNA测序和全基因组SNP数据（项目1），RNA 测序和表达数据（项目2），甲基化测序和miRNA测序数据（项目3）。 为了实现这一项目的目标，需要广泛的生物统计和生物信息学支持， 将在三个项目中的每一个项目中实施。因此，我们建立了生物统计学， 生物信息学核心（核心B），将满足这些需求的程序项目。具体来说，我们将 开发/完善DNA、RNA和甲基化测序数据的生物信息学管道，以确保 待生成的测序数据将是高质量的并且被适当地管理。这些管道将 整合到现有的生物信息学结构中，支持正在使用的其他分子数据 在这个PPG。贯穿三个项目的几个目标在本质上是创新的， 通过制定专门针对项目目标的新统计方法来解决这一问题。因此，在本发明中， 该中心还将开发和分发新的统计遗传学方法和软件，以满足 每个项目的具体需求。最后，每个项目的目标需要广泛的统计分析。 该核心将监督整个PPG的统计分析，确保分析适当 并及时完成。生物统计学和生物信息学核心将由Christoph博士指导 兰格，生物统计学教授在哈佛公共卫生学院（HSPH），与联合任命为 哈佛医学院（HMS）医学助理教授。此外，还有一支由 经验丰富的统计学家，生物信息学家和生物信息学家，他们是每个人的长期合作者 其他人和项目负责人斯科特·T博士。韦斯（项目1），本杰明A. Raby（项目2）和Dr. 道恩湖DeMeo（项目3）。他们的成功记录和生产力表明，生物统计学和 生物信息学团队将成功工作，以帮助满足本PPG的总体需求。

ABSTRACT The overarching goal of the program project, “Systems Biology of Airway Disease”, is to identify common molecular determinants and pathways for asthma and COPD. These determinants will be identified through the use of a diverse array of molecular data — DNA sequencing and genomewide SNP data (Project 1), RNA sequencing and expression data (Project 2), methylation sequencing and miRNA sequencing data (Project 3). In order to meet the goals of this project, extensive biostatistical and bioinformatics support is necessary and will be implemented throughout each of the three projects. As such, we have established a Biostatistics and Bioinformatics Core (Core B) that will meet these needs for the program project. Specifically, we will develop/refine bioinformatics pipelines for DNA, RNA and methylation sequencing data to ensure that the sequencing data to be generated will be of high quality and are managed properly. These pipelines will be incorporated into the existing bioinformatics structure that supports the other molecular data being used throughout this PPG. Several of the goals throughout the three projects are innovative in nature and are best addressed through the development of new statistical methods that are specific to the project aims. As such, this core will also develop and distribute novel statistical genetics methods and software necessary to meet the specific needs of each of the projects. Finally, the goals for each project require extensive statistical analyses. This core will oversee the statistical analyses throughout the PPG, ensuring that the analyses are appropriate and completed in a timely manner. The Biostatistics and Bioinformatics Core will be directed by Dr. Christoph Lange, Professor of Biostatistics at the Harvard School of Public Health (HSPH), with a joint appointment as Assistant Professor of Medicine at the Harvard Medical School (HMS). In addition, there is a team of experienced statisticians, bioinformaticists and bioinformaticians who are longtime collaborators with each other and with the Project Leaders, Dr. Scott T. Weiss (Project 1), Dr. Benjamin A. Raby (Project 2) and Dr. Dawn L. DeMeo (Project 3). Their successful track record and productivity suggests that the Biostatistics and Bioinformatics team will work successfully to help meet the overall needs of this PPG.