健康信息学.基因序列变异标记语言(GSVML

[中文适用范围]： 本国际标准适用于旨在促进全球基因组序列变异数据交换的数据交换格式，无需更改任何数据库模式。从信息学角度来看，GSVML 定义了基于 XML 的数据交换格式。本国际标准的范围是数据交换格式，但数据库模式本身不在本国际标准的范围内。从生物学角度来看，所有遗传序列变异都被考虑在内并属于本国际标准的范围，而多态性，特别是单核苷酸多态性（SNP），是本国际标准的主要关注点。换句话说，作为临床关注和组学关注的变异注释属于本国际标准的范围。虽然 SNP 存在于各种生物物种中，但本国际标准的范围涵盖与人类健康相关的物种，如人类、细胞系和临床前动物。其他生物物种不在本国际标准的范围内。临床领域属于本国际标准的范围，但基础研究领域和其他科学领域不在本国际标准的范围内。在此，包括药物发现在内的临床研究属于本国际标准的范围。至于假设的应用领域，主要关注人类健康，包括临床实践、预防医学、转化研究和临床研究。 [外文原描述]： ISO 25720:2009 is applicable to the data exchange format that is designed to facilitate the exchange of the genomic sequence variation data around the world, without forcing change of any database schema. From an informatics perspective, GSVML defines the data exchange format based on XML. The scope of ISO 25720:2009 is the data exchange format, but the database schema itself is outside the scope of this International Standard. From a biological point of view, all genetic sequence variations are taken into consideration and are within the scope of this International Standard, while polymorphisms, especially SNP, are the main focus of this International Standard. In other words, the annotations of variation as clinical concerns and -omics concerns are within the scope of ISO 25720:2009. Though SNPs exist in various biological species, the scope of this International Standard covers the human health associated species as human, cell line, and preclinical animals. The other biological species are outside the scope of ISO 25720:2009. The clinical field is within the scope of this International Standard, but the basic research fields and other scientific fields are outside the scope of ISO 25720:2009. Here, clinical research including drug discovery is within the scope of this International Standard. As for supposed application fields, our main focus is in human health including clinical practice, preventive medicine, translational research and clinical researches.