Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18.
The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects.
人类变异组计划(http://www.humanvariomeproject.org)是一项旨在系统收集和共享人类所有遗传变异信息的国际努力。该努力的两个主要支柱是基因/疾病特异性数据库和人类变异组计划国家节点网络。后者是在全国范围内努力记录在特定人群中报告的基因组变异的工作。国家节点的开发和成功运作对于人类变异组计划目标的成功至关重要,因为它们不仅允许在不同国家量化疾病的遗传负担,而且还为诊断医生和研究人员提供了最新资源,分别帮助他们在日常临床实践和生物医学研究中。在这里,我们报告了 2011 年 12 月 12 日在 2011 年人类变异组计划北京会议期间举行的首届国际国家顾问委员会会议的讨论和建议。我们讨论了为最大限度地发挥国家节点努力的影响以开发区域性和国家特定的临床遗传学资源而采取的必要步骤,并总结了一些协调良好的遗传数据收集举措,这些举措将成为类似项目的范例。