Bioinformatics and Biostatistics Core

大规模并行测序（MPS）技术产生了数十亿个必须映射的序列读数 复杂的基因组并加以解释。这些技术提供了前所未有的发展机会 为发育障碍患者提供诊断工具和治疗方法。然而，科学家们无法 充分利用这些技术，而无需在计算能力和生物信息学方面进行大量投资 专业知识个别科学家通常没有足够的资源来证明全职支持人员的合理性， 生物信息学专业知识。同样，缺碘症研究往往涉及小样本， 多个领域，如行为，遗传学和神经影像学，沿着纵向分析考虑到 的发展现象。这些复杂的研究总是需要复杂的生物统计学方法的数据 分析和仔细注意研究设计，以确保最佳的统计功效。通过利用重叠 计算资源和人员来处理复杂的生物医学数据，这个核心能够提供具有成本效益的 生物统计学和生物信息学服务。生物信息学和生物统计学核心有以下内容 具体目标： 1.为IDDRC研究人员提供广泛的生物统计学支持，研究行为，遗传学， 基础和临床神经科学。英国广播公司为IDDRC调查人员提供了与生物统计学专家接触的机会， 帮助分析来自临床前、成像和其他临床神经科学数据的数据（例如，EEG）、遗传学，以及 行为研究英国广播公司将为试点研究提供生物统计学支持，为研究设计提供咨询， 分析、多学科数据的综合分析，以及协助获取和协调 来自其他统计服务的额外统计资源。 2.为IDDRC研究者提供全面的生物信息学支持。研究问题 IDDRC项目越来越依赖于“组学”（例如，包括基因组学、蛋白质组学、表观基因组学）或 其他数据来源，需要大量的生物统计学和生物信息学专业知识。英国广播公司（BBC）提供了一个... 艺术生物信息学服务和计算资源，是至关重要的一个大的和不断增长的 IDDRC调查员人数。 3.提供生物统计学和生物信息学方面的非正式和正式培训。核心将定期 通过设计和分析咨询提供非正式的教学和培训。BBC工作人员还 有助于丰富的教育和培训环境，通过提供各种现有的 为IDDRC内的学员和调查人员举办研讨会、课程和演示。

Massively parallel sequencing (MPS) technologies generate billions of sequence reads that must be mapped to complex genomes and interpreted. These technologies provide an unprecedented opportunity to develop diagnostic tools and treatments for individuals with developmental disorders. However, scientists cannot make full use of these technologies without a significant investment in computational capacity and bioinformatics expertise. Individual scientists typically do not have the resources to justify full-time support of personnel with bioinformatics expertise. Similarly, IDD research often involves small samples, with intensive assessment in multiple domains such as behavior, genetics and neuroimaging, along with longitudinal analysis taking account of developmental phenomena. These complex studies invariably require complex biostatistics methods for data analysis and careful attention to study design to ensure optimal statistical power. By utilizing overlapping computational resources and personnel to process complex biomedical data, this core is able to offer cost-effective services in biostatistics and bioinformatics. The Bioinformatics and Biostatistics Core has the following specific objectives: 1. To provide broad biostatistics support to IDDRC Investigators studying behavior, genetics, arid basic and clinical neuroscience. The BBC offers IDDRC investigators access to biostatistics experts that can help analyze data from preclinical, imaging and other clinical neuroscience data (e.g., EEG), genetics, and behavioral studies. The BBC will provide biostatistics support for pilot studies, consultation on study design and analysis, integrated analysis of multidisciplinary data, and assistance with accessing and coordinating additional statistical resources from other UNC services. 2. To provide comprehensive bioinformatics support to IDDRC Investigators. The research questions posed by IDDRC projects increasingly rely on 'omics' (e.g., including genomic, proteomics, epigenomics) or other data sources, requiring substantial biostatistics and bioinformatics expertise. The BBC offers state-of-the- art bioinformatics services and computational resources that are critically important to a large and growing number of IDDRC investigators. 3. To provide informal and formal training in biostatistics and bioinformatics. The Core will regularly provide informal teaching and training through consultation around design and analysis. BBC staff also contributes to the rich educational and training environment through the provision of a variety of existing seminars, classes, and demonstrations for trainees and investigators within the IDDRC.