Hassan Nik Norliza Nik, Plazzer John-Paul, Smith Timothy D, Halim-Fikri Hashim, Macrae Finlay, Zubaidi A A L, Zilfalil Bin Alwi
Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Victoria, Australia.
Human Variome Project, The University of Melbourne, Victoria, Australia.
BMC Res Notes. 2016 Feb 26;9:125. doi: 10.1186/s13104-015-1798-0.
Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report summarises the issues surrounding the development of the Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial variants and other types of genetic variation have corresponding databases which are not covered here, as they have specific issues that do not necessarily apply to germline variations.
The ethical, legal, social issues, intellectual property, ownership of the data, information technology implementation, and efforts to improve the standards and systems used in data sharing are discussed.
An overarching framework such as provided by the Human Variome Project to co-ordinate activities is invaluable. Country Nodes, such as MyHVP, enable human gene variation associated with human diseases to be collected, stored and shared by all disciplines (clinicians, molecular biologists, pathologists, bioinformaticians) for a consistent interpretation of genetic variants locally and across the world.
基因变异数据库对于共享遗传数据以及促进对疾病遗传基础的理解非常有用。本报告总结了围绕马来西亚人类变异组计划国家节点发展的相关问题。重点是人类种系变异。体细胞变异、线粒体变异和其他类型的遗传变异有相应的数据库，这里不涉及，因为它们有一些特定问题，不一定适用于种系变异。
讨论了伦理、法律、社会问题、知识产权、数据所有权、信息技术实施以及为提高数据共享所使用的标准和系统而做出的努力。
像人类变异组计划提供的那样用于协调活动的总体框架非常宝贵。像马来西亚人类变异组计划（MyHVP）这样的国家节点能够让所有学科（临床医生、分子生物学家、病理学家、生物信息学家）收集、存储和共享与人类疾病相关的人类基因变异，以便在本地和全球对遗传变异进行一致的解读。
