Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, USA.
Hum Mutat. 2013 Apr;34(4):661-6. doi: 10.1002/humu.22293.
A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was "Getting Ready for the Human Phenome Project." Understanding the genetic contribution to both rare single-gene "Mendelian" disorders and more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort toward this important goal.
人类变异组计划（HVP）论坛作为美国人类遗传学会 2012 年年会在加利福尼亚州旧金山的卫星会议举行。本次会议的主题是“为人类表型组计划做好准备”。要了解遗传对罕见的单基因“孟德尔”疾病和更复杂的常见疾病的贡献，需要整合来自许多领域的研究工作，并更好地定义表型。HVP 致力于将世界各地的研究人员和研究人群聚集在一起，提供资源来研究遗传变异对疾病的影响。为此，需要更广泛地共享表型和基因型数据。为了实现这一目标，目前存在的许多数据库需要实现互操作性，以便将具有相似表型的队列组合起来，增加试图识别新疾病基因或致病遗传变异的研究的统计能力。迫切需要改进的系统和工具来增强从临床医生那里收集表型数据。本次会议标志着 HVP 朝着这一重要目标迈出了第一步。
