Core B: Human Genetics and Genomics Core

项目摘要/摘要 新一代测序技术和蛋白质组学的快速发展已经彻底改变了对蛋白质的研究。 人类疾病，为个性化医学的出现铺平了道路，并推进了对稀有疾病的研究 遗传综合症。虽然这带来了新的机会来检查来自人类受试者的样本 因此，我们面临着更大且越来越复杂的数据 基因和分子签名集需要专门的专业知识才能进行分析和解释。是这样的 方法是研究具有基因突变或综合征的人类受试者样本的理想方法 可能很难检测到细胞或基因的变化。成功和更有效地开展研究的障碍 罕见遗传疾病的领域包括获得这种稀有样本以及分析和 先进的基因组和蛋白质组技术所需的计算专业知识。人类遗传学与 基因组学核心还将通过优化稀有样本的收集、获取和共享来减少这些障碍 作为对这些技术的分析、实施和数据管理的支持。通过减少 在我们研究罕见的STAT3突变的共同方法中存在障碍，我们设想这将允许 高效协调我们在P01项目中的协作工作，并允许更及时和 对如此罕见的人体样本进行快速分析。

Project Summary/Abstract The rapid growth in next generation sequencing techniques and proteomics has revolutionized the study of human disease, paving the way for the advent of personalized medicine and advancing the study of rare genetic syndromes. While this has brought new opportunities to examine samples from human subjects with an unprecedented degree of granularity, as a result, we are faced with larger and increasingly complex data sets of genetic and molecular signatures that require specialized expertise for analysis and interpretation. Such approaches are ideal for the study of samples from human subjects with genetic mutations or syndromes where cellular or genetic changes may be difficult to detect. Barriers to successful and more efficient studies in the area of rare genetic disorders include access to such rare samples as well as the analytical and computational expertise required for advanced genomic and proteomic techniques. The Human Genetics and Genomics Core will reduce these barriers by optimizing collection, access and sharing of rare samples as well as supporting the analysis, implementation and data management attendant to these techniques. By reducing barriers in our shared approaches to the study of rare STAT3 mutations, we envision that this will allow more efficient coordination of our collaborative efforts across the P01 projects as well as allowing more timely and rapid analysis of such rare human samples.