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GB/T 40419-2021: Health informatics - Genomic Sequence Variation Markup Language (GSVML)
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Health informatics - Genomic Sequence Variation Markup Language (GSVML)
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GB/T 40419-2021
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Basic data | Standard ID | GB/T 40419-2021 (GB/T40419-2021) | | Description (Translated English) | Health informatics - Genomic Sequence Variation Markup Language (GSVML) | | Sector / Industry | National Standard (Recommended) | | Classification of Chinese Standard | C07 | | Word Count Estimation | 100,181 | | Issuing agency(ies) | State Administration for Market Regulation, China National Standardization Administration | GB/T 40419-2021: Health informatics - Genomic Sequence Variation Markup Language (GSVML)---This is a DRAFT version for illustration, not a final translation. Full copy of true-PDF in English version (including equations, symbols, images, flow-chart, tables, and figures etc.) will be manually/carefully translated upon your order.
Health informatics - Genomic Sequence Variation Markup Language (GSVML)
ICS 35.240.80
CCSC07
National Standards of People's Republic of China
Health informatics
Genome Sequence Variation Markup Language (GSVML)
(ISO 25720.2009,MOD)
Released on 2021-10-11
2022-05-01 implementation
State Administration for Market Regulation
Issued by the National Standardization Management Committee
Table of contents
Foreword Ⅲ
Introduction Ⅳ
1 Scope 1
2 Normative references 1
3 Terms and definitions 1
4 GSVML positioning 3
5 GSVML structure 3
6 DTD and XML Schema of GSVML 19
Appendix A (informative) GSVML development description 20
A.1 GSVML development needs analysis 20
A.2 GSVML development process 21
A.3 Basic reference materials 22
Appendix B (Normative) DTD 35 of GSVML
Appendix C (Normative) GSVML's XML Schema 53
References 95
Foreword
This document is in accordance with the provisions of GB/T 1.1-2020 "Guidelines for Standardization Work Part 1.Structure and Drafting Rules of Standardization Documents"
Drafting.
This document uses the redrafting method to modify the ISO 25720.2009 "Health Informatics Genomic Sequence Variation Markup Language (GS-
VML)".
Compared with ISO 25720.2009, this document has made the following structural adjustments.
---According to the provisions of GB/T 1.1-2020, the contents of the introduction, Chapter 2, Chapter 5, Chapter 6 and Appendix C in the original document
To sort out, integrate and delete duplicate content, adjust the introduction, chapter 4, chapter 5, chapter 6 and appendix A of this document, original document
Chapter 3 and Chapter 4 of this document are adjusted to Chapter 2 and Chapter 3 of this document, and Appendix A and Appendix B of the original document are adjusted to this document
Appendices B and C.
The technical differences between this document and ISO 25720.2009 and the reasons are as follows.
---The scope of this document has been modified in accordance with the provisions of GB/T 1.1-2020;
---Adjust "EN13606 (alparts)" in Chapter 3 of the original document to ISO 13606 (all parts) in Chapter 2 of this document;
--- Deleted 4.5, 4.13, 4.14, 4.17, 4.24 and 4.27 in the original document, and added the term "3.11 Genome Sequence Variation Marking
language".
The following editorial changes have been made to this document.
---Items 20 and 22 of the references of the original document are deleted.
Please note that some of the contents of this document may involve patents. The issuing agency of this document is not responsible for identifying patents.
This document was proposed and managed by the China National Institute of Standardization.
Drafting organizations of this document. China National Institute of Standardization, Shenzhen Huada Life Sciences Research Institute, Changzhou Nanjing University High-tech Research Institute,
Beijing University of Aeronautics and Astronautics, Zhuhai Dingji Standard Technology Co., Ltd., Institute of Science and Technology of the National Health Commission, China Pharmaceutical Enterprise Management
Association, Zhejiang Shuren University, West China Hospital of Sichuan University, Nanjing Jiruikang Biotechnology Research Institute Co., Ltd., China International Engineering Consulting Co., Ltd.
Company, Xubiao Pharmaceutical Technology (Shanghai) Co., Ltd., Shenzhen Tongbiao Technology Co., Ltd., Hunan Junke Regenerative Medicine Technology Co., Ltd., Shantou City
Xindejia Biological Technology Co., Ltd., Chaozhou Hede Biological Technology Co., Ltd.
The main drafters of this document. Ren Guanhua, Zhang Jicong, Wang Fuqing, Wang Ran, Hua Zichun, Ma Xu, Wang Yuanyuan, Li Xue, Qiao Baoliang, Lu Yin, Xu Heng,
Shu Yang, Hu Minjin, Yi Jingwei, Wei Xiao, Li Jinxuan, Fan Zhiwei, Xu Li, Tang Xiudan.
Introduction
The explosive growth of genome sequence mutation research has produced massive amounts of experimental data, which are stored in the world in various types of data formats
Numerous databases everywhere. In order to effectively manage, analyze, and use these data, the most urgent task is to standardize the data.
Realize global exchange and sharing. The International Standards Development Organization has developed or is developing relevant standards for these data, HL7
(HealthLevelSeven, Health Information Exchange and Transmission Standard) is a standard developed for clinical data, DICOM (DigitalImaging
andCommuncationinMedicine, Medical Digital Imaging and Communication) and JPEG (Joint Photographic Experts Group)
Standard, and Genomic Sequence Variation Markup Language (GSVML) is
In view of the variability of genome sequence---especially SNP (Single Nucleotide Polymorphism, single nucleotide polymorphism) and STRP
(ShortTandemRepeatPolymorphism, short tandem repeat polymorphism) Gene medicine and drug genes for improving human health
Omics has a significant role, and they are standards for genomic data, especially human-related DNA mutation data.
See Appendix A for the description of GSVML development.
This document provides a data exchange format for human health genome sequence variation data, mainly for SNP and STRP.
The case gives the regulations of GVSML. SNP and STRP are the main and simple polymorphisms in human health related research, which can be
The center extends the application of this document to other sequence variation data.
Health informatics
Genome Sequence Variation Markup Language (GSVML)
1 Scope
This document determines the location of GSPML, specifies the structure of GSPML, and gives the DTD and XML schemas of GSPML.
This document is applicable to the field of human health (including clinical practice, preventive medicine, translational research and clinical research) without compulsory change of data
Genome sequence variation data exchange in the case of library mode.
This document is applicable to species related to human health, such as humans, cell lines and preclinical test animals. This document does not apply to other
Biological species.
2 Normative references
The content of the following documents constitutes an indispensable clause of this document through normative references in the text. Among them, dated quotations
Only the version corresponding to the date is applicable to this document; for undated reference documents, the latest version (including all amendments) is applicable to
This document.
ISO 13606 (all parts) Health informatics electronic health record communication (Healthinformatics-Electronichealth-
carerecordcommunication)
3 Terms and definitions
The following terms and definitions apply to this document.
3.1
Actor
Thing or person that provides stimulation to the system.
Note. Performers include people and other semi-automatic items (such as machines, computer tasks and systems).
3.2
Bioinformatics sequence markup language bioinformaticsequencemarkuplanguage; BSML
Extensible language specification and container for biological information data.
3.3
Cell markup language celmarkuplanguage; cel ML
An extensible markup language that provides a standard method for representation and exchange of computer-based biological models.
3.4
Cancer gene analysis project cancergeneanatomyproject;CGAP
Contains genomic expression data for various tumor tissues of humans and mice, and provides methods and tests for obtaining genomic data
A database of agent information.
3.5
Digital imaging and communication in medicine; DICOM
In the field of medical informatics, it is used to exchange digital information between medical imaging equipment (such as radiological imaging) and other systems, and to ensure
Its interoperability standards.
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