Core B: Human Genetics and Genomics Core

项目总结/摘要 下一代测序技术和蛋白质组学的快速发展已经彻底改变了 人类疾病，为个性化医疗的出现铺平了道路，并推进了罕见的 遗传综合征虽然这带来了新的机会来检查来自人类受试者的样本， 前所未有的粒度，因此，我们面临着更大和越来越复杂的数据 需要专门知识进行分析和解释的遗传和分子特征集。等 这些方法对于研究来自具有基因突变或综合征的人类受试者的样本是理想的 其中细胞或遗传变化可能难以检测。阻碍成功和更有效研究的因素 罕见遗传疾病领域包括获得这种罕见样本以及分析和 先进的基因组学和蛋白质组学技术所需的计算专业知识。人类遗传学和 Genomics Core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 我们共同研究罕见STAT 3突变的方法中存在的障碍，我们设想这将使更多的人能够 有效协调我们在P01项目中的合作努力，并允许更及时和 快速分析这种罕见的人类样本。

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.