ISO 25720:2009
(Main)Health informatics — Genomic Sequence Variation Markup Language (GSVML)
Health informatics — Genomic Sequence Variation Markup Language (GSVML)
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.
Informatique de santé — Langage de balisage de la variation de séquence génomique
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INTERNATIONAL ISO
STANDARD 25720
First edition
2009-08-15
Health informatics — Genomic Sequence
Variation Markup Language (GSVML)
Informatique de santé — Langage de balisage de la variation de
séquence génomique
Reference number
ISO 25720:2009(E)
©
ISO 2009
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ISO 25720:2009(E)
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INTERNATIONAL ISO
STANDARD 25720
First edition
2009-08-15
Health informatics — Genomic Sequence
Variation Markup Language (GSVML)
Informatique de santé — Langage de balisage de la variation de
séquence génomique
Reference number
ISO 25720:2009(E)
©
ISO 2009
---------------------- Page: 1 ----------------------
ISO 25720:2009(E)
PDF disclaimer
This PDF file may contain embedded typefaces. In accordance with Adobe's licensing policy, this file may be printed or viewed but
shall not be edited unless the typefaces which are embedded are licensed to and installed on the computer performing the editing. In
downloading this file, parties accept therein the responsibility of not infringing Adobe's licensing policy. The ISO Central Secretariat
accepts no liability in this area.
Adobe is a trademark of Adobe Systems Incorporated.
Details of the software products used to create this PDF file can be found in the General Info relative to the file; the PDF-creation
parameters were optimized for printing. Every care has been taken to ensure that the file is suitable for use by ISO member bodies. In
the unlikely event that a problem relating to it is found, please inform the Central Secretariat at the address given below.
COPYRIGHT PROTECTED DOCUMENT
© ISO 2009
All rights reserved. Unless otherwise specified, no part of this publication may be reproduced or utilized in any form or by any means,
electronic or mechanical, including photocopying and microfilm, without permission in writing from either ISO at the address below or
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ii © ISO 2009 – All rights reserved
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ISO 25720:2009(E)
Contents Page
Foreword .iv
Introduction.v
1 Scope.1
2 Conformance .1
2.1 Purpose .1
2.2 Needs and general requirements.1
3 Normative references.2
4 Terms and definitions .2
5 GSVML specification.5
5.1 Specification requirements and GSVML positioning .5
5.2 GSVML structure .5
5.3 GSVML DTD and XML schema.5
6 GSVML development process.5
Annex A (normative) DTD of GSVML .22
Annex B (normative) XML schema of GSVML .46
Annex C (informative) Basic reference works.105
Bibliography.131
© ISO 2009 – All rights reserved iii
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ISO 25720:2009(E)
Foreword
ISO (the International Organization for Standardization) is a worldwide federation of national standards bodies
(ISO member bodies). The work of preparing International Standards is normally carried out through ISO
technical committees. Each member body interested in a subject for which a technical committee has been
established has the right to be represented on that
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