Forums for Integrative Phenomics

综合表型组学论坛

• 批准号: 10486489
• 负责人: MELISSA A HAENDEL
• 金额: $ 7.4万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-18 至 2023-09-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10486489
• 关键词: Forums; Integrative; Phenomics

PROJECT SUMMARY Genomic approaches are poised to revolutionize medicine by providing the basis for precision therapies and diagnostics, but it remains difficult and in many cases impossible to interpret genomic data without knowledge of the clinical situation. Phenomics is a new field that aims to collect, exchange, and analyze clinical phenotype data and integrate it into the clinical and translational assessment of genomics data. A critical challenge for genomic medicine is therefore to identify the genetic etiologies and environmental factors that underlie Mendelian disease, cancer, and common and complex diseases. However, interpretation of genomic data requires a fundamental understanding of phenotypic data, as well as new algorithms, tools, and data structures that can operate on them. Here, we propose to create the Forums For Integrative Phenomics (FFIP) to enable and accelerate scientific discoveries for maximizing use of phenotypic data across the translational landscape for improved patient care, and for precision medicine. FFIP events will governed by Phenopackets, a community-based organization with currently >400 members spanning diverse stakeholder groups whose vision is to develop and promote Open and Computable Knowledge-sharing Technologies designed for capturing, sharing, and exploiting structured bioinformatic phenotype knowledge. The FFIP events will enable phenomics researchers from different areas and roles in basic, clinical, and translational research to share their ideas, tools, algorithms and data in order to address these shared challenges. For each of three years, the FFIP will facilitate one annual meeting coupled with three community workshops and hackathons. All events will focus on state-of-the-art approaches for phenotype data analysis that complement and work synergistically with genomic analyses. FFIP events will facilitate the development of and training in emerging software and standards for Big Data in phenomics, and will foster collaboration amongst young researchers, underrepresented minorities, women, and those in less prominent or traditional research roles. A key theme will be transitioning from traditional, low-throughput methods of measuring and reporting phenotypes towards big-data approaches. The FFIP events will therefore enable participants to contribute to, access, integrate, and analyze diverse phenomic data that will enable diagnoses, treatment selection, and new discoveries.

项目摘要 基因组方法有望通过为精确疗法的基础提供革新医学的革新 诊断，但仍然很困难，在许多情况下，没有知识就无法解释基因组数据 临床状况。现象学是一个旨在收集，交换和分析临床表型的新领域 数据并将其集成到基因组学数据的临床和翻译评估中。对 因此，基因组医学是为了确定基础的遗传病因和环境因素 孟德尔病，癌症以及常见和复杂疾病。但是，基因组数据的解释 需要对表型数据以及新算法，工具和数据结构的基本了解 可以对它们进行操作。在这里，我们建议创建综合现象学论坛（FFIP）以启用 并加速了科学发现，以最大程度地利用整个转化景观的表型数据 用于改善患者护理和精确医学。 FFIP事件将由Phenopackets支配，一个 基于社区的组织，目前有> 400名成员，涉及多元化的利益相关者群体 愿景是开发和促进专为设计的开放且可计算的知识共享技术 捕获，共享和利用结构化生物信息学的表型知识。 FFIP事件将启用 来自不同领域的现象学研究人员以及在基本，临床和转化研究中的作用 他们的想法，工具，算法和数据，以应对这些共同的挑战。在三年中的每一年 FFIP将促进一次年度会议，再加上三个社区研讨会和黑客马拉松。全部 事件将重点介绍对补充和工作的表型数据分析的最新方法 与基因组分析协同作用。 FFIP事件将促进新兴的发展和培训 现象学大数据的软件和标准，并将促进年轻研究人员之间的合作 代表性不足的少数民族，妇女以及较不突出或传统研究角色的人。一个关键主题 将从传统的，低通量的测量和报告表型过渡到 大数据接近。因此，FFIP事件将使参与者能够为，访问，整合和 分析将诊断，治疗选择和新发现的不同现象数据。