Core B: Human Genetics and Genomics Core

核心 B：人类遗传学和基因组学核心

• 批准号: 10328100
• 负责人: Alexander Marson
• 金额: $ 17.39万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-02-17 至 2027-01-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10328100
• 关键词: Animal Model; Area; Collaborations; Collection; DNA Sequence Alteration; Data Analyses; Data Set; Database Management Systems; Disease; Ensure; Genetic; Genomics; Human; Human Genetics; Immune Tolerance; Immunologic Deficiency Syndromes; Immunologics; Individual; Molecular Profiling; Mutation; Proteomics; Research Personnel; STAT3 gene; Sampling; Sampling Studies; Syndrome; Techniques; Time; Variant; base; complex data; data management; data sharing; genetic signature; human disease; human genomics; human subject; improved; next generation sequencing; personalized medicine; rapid growth; rare genetic disorder

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.

项目概要/摘要 下一代测序技术和蛋白质组学的快速发展彻底改变了以下领域的研究： 人类疾病，为个性化医疗的出现铺平了道路，并推进了罕见病的研究 遗传综合症。虽然这带来了新的机会来检查人类受试者的样本 前所未有的粒度，因此，我们面临着更大且日益复杂的数据 需要专门知识进行分析和解释的一组遗传和分子特征。这样的 该方法非常适合研究具有基因突变或综合症的人类受试者样本 细胞或基因变化可能难以检测。成功和更有效研究的障碍 罕见遗传疾病领域包括获取此类罕见样本以及分析和 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 支持与这些技术相关的分析、实施和数据管理。通过减少 尽管我们研究罕见 STAT3 突变的共同方法存在障碍，但我们预计这将允许更多 有效协调我们在 P01 项目中的协作努力，并允许更及时和更 快速分析此类罕见的人类样本。