Human Genetics and Clinical Research Core

项目SUIWANG（见说明）：遗传学和基因组学方法在确定人类健康和疾病的基础新生物学方面具有很高的生产力。在奥布莱恩中心的支持下，外显子组测序的发展极大地加速了过去5年的进展，外显子组测序是一种快速和廉价地测序基因组中所有蛋白质编码基因的方法。疾病基因发现的成功需要临床医生、基础科学家和生物统计学家之间的多种技能和有效合作。必要的工具包括临床医学的专业知识，法规环境的知识，以允许制定适当的HIC协议，研究设计的专业知识，以确保研究有足够的动力，技术专业知识，以确保基于实验室的方法保持在该领域的前沿，以及一流的结果生物统计分析，以确保结果是有效的和强大的。耶鲁大学在这些领域都有专业知识，因此耶鲁大学的研究人员一直处于这一奋进的最前沿，在孟德尔疾病和复杂性状的基因发现方面处于领先地位。在过去的5年里，耶鲁大学奥布莱恩中心培育的项目已经导致发现了一系列肾脏疾病的新疾病基因，更多的发现项目正在进行中，来自NIDDK社区的主要研究人员。该核心将继续为发现过程沿着所有步骤提供关键基础设施支持，包括HIC协议的开发，患者招募，工具生产和下一代DNA测序和其他大型数据集的分析。该核心将为学生，研究员和教师提供有效的培训，并将有助于从事翻译研究的新研究人员。

PROJECT SUIWMARY (See instructions): Genetic and genomic approaches have been highly productive in identifying new biology that underlies human health and disease. Advances in the last 5 years have been dramatically accelerated by the development, with support of the O'Brien Center, of exome sequencing, a method for rapiidly and inexpensively sequencing all the protein-coding genes in the genome. Success in disease gene discovery 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 HIC protocols, expertise in study design to ensure that studies are adequately powered, technological expertise to ensure that lab-based approaches remain at the cutting edge of the field, and first-rate 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 finding for Mendelian disease and complex traits across diverse disciplines. In the last 5 years, projects fostered by the Yale O'Brien center have led to 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, tools production 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.