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人类变异组计划的标准制定

Standard development at the Human Variome Project.

作者信息

Smith Timothy D, Vihinen Mauno

机构信息

Human Variome Project, Level 5, 234 Queensberry Street, The University of Melbourne, Victoria, 3010, Australia and Department of Experimental Medical Science, BMC D10, Lund University, SE-22184 Lund, Sweden.

Human Variome Project, Level 5, 234 Queensberry Street, The University of Melbourne, Victoria, 3010, Australia and Department of Experimental Medical Science, BMC D10, Lund University, SE-22184 Lund, Sweden

出版信息

Database (Oxford). 2015 Mar 27;2015. doi: 10.1093/database/bav024. Print 2015.

Abstract

The Human Variome Project (HVP) is a world organization working towards facilitating the collection, curation, interpretation and free and open sharing of genetic variation information. A key component of HVP activities is the development of standards and guidelines. HVP Standards are systems, procedures and technologies that the HVP Consortium has determined must be used by HVP-affiliated data sharing infrastructure and should be used by the broader community. HVP guidelines are considered to be beneficial for HVP affiliated data sharing infrastructure and the broader community to adopt. The HVP also maintains a process for assessing systems, processes and tools that implement HVP Standards and Guidelines. Recommended System Status is an accreditation process designed to encourage the adoption of HVP Standards and Guidelines. Here, we describe the HVP standards development process and discuss the accepted standards, guidelines and recommended systems as well as those under acceptance. Certain HVP Standards and Guidelines are already widely adopted by the community and there are committed users for the others.

摘要

人类变异组计划(HVP)是一个致力于促进遗传变异信息的收集、整理、解读以及免费和开放共享的全球性组织。HVP活动的一个关键组成部分是标准和指南的制定。HVP标准是HVP联盟确定HVP附属数据共享基础设施必须使用且广大群体也应使用的系统、程序和技术。HVP指南被认为有利于HVP附属数据共享基础设施及广大群体采用。HVP还设有一个对实施HVP标准和指南的系统、流程及工具进行评估的程序。推荐系统状态是一个旨在鼓励采用HVP标准和指南的认证程序。在此,我们描述HVP标准的制定过程,并讨论已被接受的标准、指南和推荐系统以及正在接受审核的相关内容。某些HVP标准和指南已被广大群体广泛采用,其他的也有忠实用户。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c78/4375356/9db54757a9f2/bav024f1p.jpg

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