国际人类表型组联盟第四次理事会会议报告。

IF 3.7 Q2 GENETICS & HEREDITY
Phenomics (Cham, Switzerland) Pub Date : 2024-05-26 eCollection Date: 2024-06-01 DOI:10.1007/s43657-023-00139-5
Mei Tian, Han Liu, Shiwen Peng, Zhong Yang, Weishuo Tao, Huiting Che, Xuanxuan Gao, Li Jin
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引用次数: 0

摘要

表型组作为生物医学的下一个创新源已成为共识。作为致力于大规模人类表型组研究和推动人类表型组计划的全球网络,国际人类表型组联盟(IHPC)理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成员间的协调方面发挥着至关重要的作用。国际人类表型组联盟第四次理事会会议于2022年12月13日以虚拟方式召开。会议期间,主旨发言强调了表型组学的最新进展。第一个人类表型组图集的构建和发现在肢体发育、疾病预防和早期诊断方面显示出巨大潜力。将基因组-表型组测序、分析和健康指导结合起来,可以提高个人健康水平。从健康状态到疾病状态再到康复的表型组学轨迹,让人们深入了解了与 COVID-19 相关的代谢风险空间。来自加纳、马来西亚、印度和俄罗斯的理事会成员介绍了各自的计划和研究进展。IHPC 董事会审议了 "人类表型相关测量框架指南 "和 "PhenoBank 计划提案"。会议还介绍了国际人类表型组学委员会期刊《表型组学》的年度报告。会议对实验室协调、可互操作的数据库和标准化平台进行了富有成效的讨论,这将促进人类表型组计划的协同研究工作。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Report on the 4th Board Meeting of the International Human Phenome Consortium.

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 Phenomics. Laboratory coordination, interoperable databases, and standardized platforms were productively discussed, which would enable concerted research efforts of the Human Phenome Project.

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