Human Genetics and Clinical Research Core

核心C项目摘要/摘要 遗传学和基因组学方法的最新进展在识别新的 人类健康和疾病的生物学基础。来自世界银行的基因组技术开发支持 在过去的5年里，奥布莱恩中心实现了尖端技术和 实现外显子组和其他序列分析的成本降低。同样，在生物标志物发现方面的成功 方法学和多重分析的发展使得这些信号在临床环境中得以翻译。 疾病基因发现和翻译研究的成功需要不同的技能组合和有效的 临床医生、基础科学家和生物统计学家之间的合作。必要的工具包括以下专业知识 临床医学，监管环境的知识，以允许开发适当的IRB方案， 研究设计方面的专业知识，以确保研究有足够的统计动力，技术专业知识 确保以实验室为基础的方法始终处于该领域的前沿，并且是一流的 对结果进行生物信息/生物统计分析，以确保调查结果是有效和可靠的。耶鲁大学已经发展出 因此，耶鲁大学的研究人员一直站在这一领域的前沿 与领先者一起努力发现肾脏和孟德尔疾病的基因以及复杂的性状和翻译 研究。在过去的5年里，由51名耶鲁和非耶鲁调查人员培育的项目导致了 发表了80多篇文章，其中许多发表在知名期刊上。这些出版物报道了 发现一系列肾脏疾病的新疾病基因，还有更多的发现项目 正在与NIDDK社区的主要调查人员合作。这一核心将继续提供关键 为发现过程中的所有步骤提供基础架构支持，包括开发HIC协议、患者 招募、发现和验证生物标记物，以及分析下一代DNA测序和其他 大数据集。这一核心将为学生、研究员和教职员工提供有效的培训，并将有助于 翻译研究领域的新研究者。

Core C Project Summary/Abstract Recent advancements in genetic and genomic approaches have been highly productive in identifying new biology underlying human health and disease. The genomic technology development support from The O'Brien Center, over the last 5 years, has enabled the implementation of cutting-edge technologies and achieve cost reductions of exome and other sequence analyses. Similarly, success in biomarker discovery methodology and multiplex assay development have allowed translational of these signals in clinical settings. Success in disease gene discovery and translational research requires diverse skill sets and effective collaborations among clinicians, basic scientists, and biostatisticians. Necessary tools include expertise in clinical medicine, knowledge of the regulatory environment to permit development of appropriate IRB protocols, expertise in study design to ensure that studies are adequately statistically powered, technological expertise to ensure that lab-based approaches remain at the cutting edge of the field, and first-rate bioinformatical/biostatistical analysis of results to ensure that findings are valid and robust. Yale has developed expertise in each of these areas and as a consequence, Yale investigators have been at the forefront of this endeavor with leaders in gene discovery for renal and Mendelian diseases and complex traits and translational research. In the last 5 years, projects fostered by 51 Yale and non-Yale investigators have led to the publication of more than 80 articles, many of them in high-profile journals. These publications report on the discovery of new disease genes for a wide array of kidney diseases, with many more discovery projects underway with leading investigators from the NIDDK community. This core will continue to provide key infrastructure support for all steps along the path to discovery, including development of HIC protocols, patient recruitment, biomarker discovery and validation, and analysis of next generation DNA sequencing and other large data sets. This core will provide effective training for students, fellows and faculty, and will help engage new investigators in translational research.