Forums for Integrative Phenomics

项目总结 基因组方法为精确治疗和治疗提供了基础，有望给医学带来革命性的变化 诊断学，但在没有知识的情况下解释基因组数据仍然困难，在许多情况下是不可能的 临床情况。表型组学是一个旨在收集、交流和分析临床表型的新领域 数据，并将其整合到基因组数据的临床和翻译评估中。一项严峻的挑战 因此，基因组医学是确定遗传病因和环境因素的基础。 孟德尔病、癌症以及常见和复杂的疾病。然而，对基因组数据的解释 需要对表型数据以及新的算法、工具和数据结构有基本的了解 可以给他们做手术。在这里，我们建议创建整合表型组学论坛(FFIP)，以实现 并加速科学发现，以最大限度地利用翻译领域的表型数据 用于改善病人护理，以及精准医疗。FFIP活动将由Phenopackets、 以社区为基础的组织，目前有400名成员，涉及不同的利益相关者群体，他们 愿景是开发和促进开放的、可计算的知识共享技术，旨在 获取、共享和利用结构化生物信息表型知识。FFIP事件将启用 来自不同领域和不同角色的表型组学研究人员分享基础、临床和翻译研究 他们的想法、工具、算法和数据，以应对这些共同的挑战。三年中的每一年， FFIP将为一次年度会议以及三次社区研讨会和黑客松提供便利。全 活动将集中于最先进的表型数据分析方法，以补充和发挥作用 与基因组分析协同工作。FFIP活动将促进新兴市场的发展和培训 表型组学中的大数据软件和标准，并将促进年轻研究人员之间的合作， 代表不足的少数群体、妇女，以及那些不那么突出或传统的研究角色。一个关键主题 将从传统的低吞吐量的表型测量和报告方法过渡到 大数据方法。因此，FFIP活动将使参与者能够贡献、访问、整合和 分析各种现象数据，使诊断、治疗选择和新发现成为可能。

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.