Forums for Integrative Phenomics

项目概要 基因组方法有望为精准治疗和治疗提供基础，从而彻底改变医学。 诊断，但在没有知识的情况下解释基因组数据仍然很困难，在许多情况下是不可能的 的临床情况。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数据的临床和转化评估中。一个严峻的挑战 因此，基因组医学的目的是确定导致疾病的遗传病因和环境因素。 孟德尔疾病、癌症以及常见和复杂的疾病。然而，基因组数据的解释 需要对表型数据以及新算法、工具和数据结构有基本的了解 可以对它们进行操作。在这里，我们建议创建综合表型组学论坛 (FFIP)，以实现 并加速科学发现，最大限度地利用整个转化领域的表型数据 改善患者护理和精准医疗。 FFIP 活动将由 Phenopackets 管理，Phenopackets 基于社区的组织，目前拥有超过 400 名成员，涵盖不同的利益相关群体， 愿景是开发和推广开放和可计算的知识共享技术，旨在 捕获、共享和利用结构化生物信息表型知识。 FFIP 事件将启用 来自基础、临床和转化研究不同领域和角色的表型组学研究人员进行分享 他们的想法、工具、算法和数据，以解决这些共同的挑战。每三年， FFIP 将举办一次年度会议以及三场社区研讨会和黑客马拉松。全部 活动将重点关注补充和发挥作用的最先进的表型数据分析方法 与基因组分析具有协同作用。 FFIP 活动将促进新兴领域的发展和培训 表型组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， 代表性不足的少数群体、女性以及那些不太突出或传统研究角色的人。一个关键主题 将从测量和报告表型的传统低通量方法过渡到 大数据方法。因此，FFIP 活动将使参与者能够做出贡献、访问、整合和 分析不同的表组数据，从而实现诊断、治疗选择和新发现。

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.