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国际人类表型组学联盟第四次董事会会议报告

Report on the 4th Board Meeting of the International Human Phenome Consortium.

作者信息

Tian Mei, Liu Han, Peng Shiwen, Yang Zhong, Tao Weishuo, Che Huiting, Gao Xuanxuan, Jin Li

机构信息

Human Phenome Institute, Fudan University, Shanghai, 200438 China.

International Human Phenome Institutes (Shanghai), Shanghai, 200433 China.

出版信息

Phenomics. 2024 May 26;4(3):254-256. doi: 10.1007/s43657-023-00139-5. eCollection 2024 Jun.

DOI:10.1007/s43657-023-00139-5
PMID:39398422
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11467133/
Abstract

Phenome has become a consensus as the next innovation source of biomedicine. As the global network dedicated to large-scale research efforts on human phenome and promoting the Human Phenome Project, the Board of International Human Phenome Consortium (IHPC) plays an essential role to guide the strategy and implementation of international human phenome project and to ensure coordination across the IHPC members. The 4th International Human Phenome Consortium Board Meeting was held virtually on December 13, 2022. During the meeting, the keynote speeches highlighted the latest advancements in phenomics. The construction and discoveries of the first human phenome Atlas had shown promising potential in limb development, disease prevention, and early diagnosis. Combining genome-phenome sequencing, analysis, and wellness coaching enhanced individual wellness. Phenomics trajectories from healthy to diseased states and recovery provided insight into the metabolic risk spaces associated with COVID-19. Board members from Ghana, Malaysia, India, and Russia presented their own plans and research progress. The IHPC Board deliberated on the "Framework Guidelines for Human Phenome-related Measurements" and "Proposal of the PhenoBank Initiative". The meeting also featured a presentation of the annual report of the IHPC Journal . Laboratory coordination, interoperable databases, and standardized platforms were productively discussed, which would enable concerted research efforts of the Human Phenome Project.

摘要

表型组已成为生物医学的下一个创新来源的共识。作为致力于人类表型组大规模研究并推动人类表型组计划的全球网络,国际人类表型组学协会(IHPC)董事会在指导国际人类表型组计划的战略和实施以及确保IHPC成员之间的协调方面发挥着至关重要的作用。第四届国际人类表型组学协会董事会会议于2022年12月13日以线上方式举行。会议期间,主题演讲突出了表型组学的最新进展。首个人类表型组图谱的构建和发现已在肢体发育、疾病预防和早期诊断方面展现出了有前景的潜力。结合基因组-表型组测序、分析和健康指导可提升个人健康水平。从健康状态到患病状态及康复的表型组学轨迹为与新冠肺炎相关的代谢风险空间提供了见解。来自加纳、马来西亚、印度和俄罗斯的董事会成员介绍了他们自己的计划和研究进展。IHPC董事会审议了“人类表型组相关测量的框架指南”和“表型库倡议提案”。会议还展示了IHPC期刊的年度报告。实验室协调、可互操作的数据库和标准化平台得到了富有成效的讨论,这将推动人类表型组计划的协同研究工作。

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Nat Immunol. 2023 Feb;24(2):349-358. doi: 10.1038/s41590-022-01380-2. Epub 2023 Jan 30.
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Limb development genes underlie variation in human fingerprint patterns.肢体发育基因是人类指纹模式差异的基础。
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A wellness study of 108 individuals using personal, dense, dynamic data clouds.一项针对108名个体的健康研究,使用个人、密集、动态的数据云。
Nat Biotechnol. 2017 Aug;35(8):747-756. doi: 10.1038/nbt.3870. Epub 2017 Jul 17.