ISO 25720:2009 保健信息学 基因组序列变异标记语言（GSVML）
标准编号：ISO 25720:2009
中文名称：保健信息学 基因组序列变异标记语言（GSVML）
英文名称：Health informatics — Genomic Sequence Variation Markup Language (GSVML)
发布日期：2009-08
标准范围
ISO 25720:2009适用于数据交换格式，该格式旨在促进全球基因组序列变异数据的交换，而无需强制更改任何数据库模式。从信息学的角度来看，GSVML定义了基于XML的数据交换格式。ISO 25720:2009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，并在本国际标准的范围内，而多态性，尤其是SNP，是本国际标准的主要关注点。换句话说，作为临床问题和组学问题的变异注释在ISO 25720:2009的范围内。尽管SNPs存在于各种生物物种中，但本国际标准的范围包括人类、细胞系和临床前动物等与人类健康相关的物种。其他生物物种不在ISO 25720:2009的范围内。临床领域在本国际标准的范围内，但基础研究领域和其他科学领域不在ISO 25720:2009的范围内。在这里，包括药物发现在内的临床研究属于本国际标准的范围。至于预期的应用领域，我们主要关注人类健康，包括临床实践、预防医学、转化研究和临床研究。
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.
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