Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia.
Hum Mutat. 2010 Dec;31(12):1374-81. doi: 10.1002/humu.21379.
The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access-Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access-Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease-specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium.
第三届人类变异基因组计划（HVP）会议“整合与实施”于 2010 年 5 月 10 日至 14 日在法国巴黎教科文组织总部举行，由教科文组织赞助。HVP 的主要目标是收集、管理和分发所有影响健康的人类遗传变异。HVP 将不同的群体聚集在一起，按国家、感兴趣的基因和专业知识进行分组，他们共同为共同的利益而努力，共同推动人类变异组的边界，并合作避免不必要的重复。会议讨论了当前 HVP 活动框架的 12 个关键领域：伦理学；命名和标准；出版、信用和激励措施；从诊所收集数据；整体数据集成和访问-外围系统/软件；从实验室收集数据；致病性评估；特定国家的收集；转化为医疗保健和个性化医疗；数据传输、数据库和管理；整体数据集成和访问-中央系统；以及资金机制和可持续性。此外，三个支持 HVP 目标和使命的协会也举办了自己的研讨会，旨在推进特定疾病变异数据的收集和利用：国际胃肠道遗传肿瘤学会、微量营养素基因组计划和神经遗传学联合会。
