BS ISO 25720:2009 - Page 2

Health informatics. Genomic sequence variation markup language (GSVML). | Status: Current, Under review

1 Scope This International Standard 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 this International Standard 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 SNPs, 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 this International Standard. 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 this International Standard. 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 this International Standard. Here, clinical research, including drug discovery, is within the scope of this International Standard. As for supposed application fields, the main focus is in human health, including clinical practice, preventive medicine, translational research and clinical researches.