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中文摘要
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大规模并行测序(MPS)技术生成数十亿次必须映射的序列读取 复杂的基因组和解释。这些技术提供了前所未有的发展机遇 为患有发育障碍的个人提供诊断工具和治疗。然而,科学家们无法使 充分利用这些技术,而无需在计算能力和生物信息学方面投入大量资金 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具有 生物信息学专业知识。同样,IDD研究往往涉及小样本,在 多个领域,如行为、遗传学和神经成像,以及考虑到纵向分析 关于发育现象的。这些复杂的研究总是需要复杂的生物统计学方法来处理数据 分析和认真注意研究设计,以确保最优的统计能力。通过利用重叠 处理复杂生物医学数据的计算资源和人员,这一核心能够提供具有成本效益的 生物统计和生物信息学服务。生物信息学和生物统计核心有以下内容 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、遗传学和 基础和临床神经科学。BBC为IDDRC调查人员提供联系生物统计学专家的途径,可以 帮助分析来自临床前、成像和其他临床神经科学数据(例如,EEG)、遗传学和 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,就研究设计和 分析、综合分析多学科数据,并协助访问和协调 其他UNC服务提供的额外统计资源。 2.向红十字国际研究中心的调查人员提供全面的生物信息学支持。研究问题 IDDRC提出的项目越来越依赖“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和生物信息学专业知识。英国广播公司提供了最新的 ART生物信息学服务和计算资源对大型且不断增长的 国际发展研究中心的调查员人数。 3.提供生物统计和生物信息学方面的非正式和正式培训。核心将定期 通过咨询设计和分析,提供非正式的教学和培训。BBC工作人员也 为丰富的教育和培训环境做出贡献,提供各种现有的 在国际发展研究中心内为受训人员和调查人员举办研讨会、课程和演示。
英文摘要
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.
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Data Science Core
Data Science Core
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Evaluation of the Genetics of Hidradenitis Suppurativa
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