Forums for Integrative Phenomics

项目摘要 基因组方法有望通过为精确治疗提供基础来彻底改变医学， 诊断，但它仍然是困难的，在许多情况下不可能解释基因组数据没有知识 临床情况。表型组学是一个旨在收集、交换和分析临床表型的新领域 数据并将其整合到基因组学数据的临床和转化评估中。一个关键的挑战， 因此，基因组医学是确定遗传病因和环境因素， 孟德尔氏病、癌症、常见病和复杂病。然而，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）， 并加速科学发现，以最大限度地利用跨翻译景观的表型数据 用于改善病人护理和精准医疗。FFIP事件将由Phenopackets管理， 一个基于社区的组织，目前有超过400名成员，来自不同的利益相关者群体， 我们的愿景是开发和促进开放和可计算的知识共享技术， 捕获、共享和利用结构化的生物信息学表型知识。FFIP事件将使 来自不同领域和角色的表型组学研究人员在基础，临床和转化研究中分享 他们的想法，工具，算法和数据，以应对这些共同的挑战。三年来， FFIP将促进一次年度会议，以及三次社区研讨会和黑客马拉松。所有 活动将集中在最先进的方法，表型数据分析，补充和工作 与基因组分析协同作用。FFIP活动将促进新兴的发展和培训， 软件和标准的大数据在表型组学，并将促进合作之间的年轻研究人员， 代表性不足的少数民族、妇女和那些不太突出或传统的研究角色。一个关键主题 将从传统的、低通量的测量和报告表型的方法过渡到 大数据方法。因此，FFIP活动将使参与者能够贡献，访问，整合， 分析不同的表型数据，使诊断，治疗选择和新的发现。

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.