ISO/TS 8392:2023
(Main)Genomics informatics — Description rules for genomic data for genetic detection products and services
Genomics informatics — Description rules for genomic data for genetic detection products and services
This document specifies requirements on the category definition and quality assessment of genomic data, including the content structure, attribute and description rules of data format, and the compilation rules of data format. This document applies to all the genomic data used for human genetic detection products and services. This document applies to genomic data processing and analysis, and to the quality evaluation/assessment of genomic data.
Informatique génomique — Règles de description des données génomiques pour les produits et services de détection génétique
General Information
Standards Content (Sample)
TECHNICAL ISO/TS
SPECIFICATION 8392
First edition
2023-05
Genomics informatics — Description
rules for genomic data for genetic
detection products and services
Informatique génomique — Règles de description des données
génomiques pour les produits et services de détection génétique
Reference number
© ISO 2023
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ii
Contents Page
Foreword .iv
Introduction .v
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Data format attribute and description rules . 2
5 Composition and rules of genomic data description . 2
5.1 Identifier . 2
5.2 Data format . 2
5.3 Data archiving catalogue . 2
5.4 Metadata . 2
6 Core elements and rules for the description of genomic data . 2
6.1 Identifier . 2
6.2 Name . 3
7 Requirement of code . 3
7.1 Code structure . 3
7.2 Code length . 4
7.3 Code type and format . 4
7.4 Code list naming . 4
8 Compatibility with other rules .5
Annex A (informative) . 6
Annex B (informative) Examples of Identifier: Two-level structure DI_V1 .11
Annex C (informative) Examples of Metadata Code .14
Annex D (informative) Code length calculation .16
Bibliography .17
iii
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
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ISO collaborates closely with the International Electrotechnical Commission (IEC) on all matters of
electrotechnical standardization.
The procedures used to develop this document and those intended for its further maintenance are
described in the ISO/IEC Directives, Part 1. In particular, the different approval criteria needed for the
different types of ISO documents should be noted. This document was drafted in accordance with the
editorial rules of the ISO/IEC Directives, Part 2 (see www.iso.org/directives).
Attention is drawn to the possibility that some of the elements of this document may be the subject of
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any patent rights identified during the development of the document will be in the Introduction and/or
on the ISO list of patent declarations received (see www.iso.org/patents).
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expressions related to conformity assessment, as well as information about ISO's adherence to
the World Trade Organization (WTO) principles in the Technical Barriers to Trade (TBT), see
www.iso.org/iso/foreword.html.
This document was prepared by Technical Committee ISO/TC 215, Health informatics, Subcommittee
SC 1, Genomics informatics.
Any feedback or questions on this document should be directed to the user’s national standards body. A
complete listing of these bodies can be found at www.iso.org/members.html.
iv
Introduction
The decreasing cost of sequencing and the gradual in-depth study of genomics have led to the generation
of more and more genomic data, but the data quality in genomics is not optimal. From the dimension
of data level, there is a lack of data integrity, and medical information has been facing a problem of
semantic disunity. These problems have caused great obstacles to downstream applications.
Standardization of data is a prerequisite for data asset management and data storage and applications,
which can give better storage for genomic data and enlarge these genomic data used in precision
medicine.
This document is based on the actual situation of industry data production, combined with the needs of
upstream and downstream industry users. It also takes into account the use made by stakeholders and
user friendliness for all common types of genomic data. Solving the problem of data scope and semantic
unification can enhance the data association ability, ensure information exchange, improve data flow,
improve the data quality from the aspects of data integrity and data validity, and lay a good foundation
for subsequent data storage, data application and data sharing.
v
TECHNICAL SPECIFICATION ISO/TS 8392:2023(E)
Genomics informatics — Description rules for genomic
data for genetic detection products and services
1 Scope
This document specifies requirements on the category definition and quality assessment of genomic
data, including the content structure, attribute and description rules of data format, and the compilation
rules of data format.
This document applies to all the genomic data used for human genetic detection products and services.
This document applies to genomic data processing and analysis, and to the quality evaluation/
assessment of genomic data.
2 Normative references
There are no normative references in this document.
3 Terms and definitions
For the purposes of this document, the following terms and definitions apply.
ISO and IEC maintain terminology databases for use in standardization at the following addresses:
— ISO Online browsing platform: available at https:// www .iso .org/ obp
— IEC Electropedia: available at https:// www .electropedia .org/
3.1
alignment-sequence code
continuous coding of objects in the same series, and reserving of extended space
3.2
code
representation of a piece of information such as a letter, word or phrase in another form, usually briefer
3.3
code structure
representation of the composition and length of a complete code
3.4
equal length code
coding system in which all coding objects have the same length
3.5
data identifier
DI
identifier that uniquely distinguishes one set of data from all others
3.6
layer code
hierarchical code consisting of membership order of coded objects
3.7
sequential code
code that represents in the natural order of Arabic numerals, or letters
3.8
variable-length code
code system in which the length of code is not exactly the same
3.9
version identifier
VI
unique number assigned to identify a version of submitted genomic data
4 Data format attribute and description rules
Genomic data can be classified as unstructured data and structured data.
The unstructured data should be described by data format, illustration of data format and archiving
catalogue.
The structured data should be described by metadata and data element code.
5 Composition and rules of genomic data description
5.1 Identifier
The description of genomic data should include data format, data attribute and metadata.
5.2 Data format
Data attribute elements for the description of data format are totally classified into 11 attributes in five
categories, shown in Table A.1. According to the universal property, including data element common
attributes and data element specific attributes.
5.3 Data archiving catalogue
Data elements for the data archiving catalogue are totally classified into 11 attributes in five categories,
shown in Table A.2. According to the universal property, including data element common attributes and
data element specific attributes.
5.4 Metadata
Data elements for metadata description are totally classified into 14 attributes in five categories, shown
in Table A.3. According to the universal property, including data element common attributes and data
element specific attributes.
6 Core elements and rules for the description of genomic data
6.1 Identifier
Identifier shall use alphanumeric code. The structure may be considered a two-level structure,
including DI and VI.
The structure of a data identifier is shown in Figure 1. Data identifier examples are shown in Annex B,
such as sequence information (see Table B.1) and bioinformatic analysis (see Table B.2).
Figure 1 — Structure of data identifier
6.2 Name
6.2.1 The data format name shall be unique and in the form of strings with letters and numbers. The
naming of data elements should use a certain logical structure and general terminology.
6.2.2 A complete data element name shall consist of object class term, property term, representation
term and (qualifier term).
— A data element has one and only one object class term. If there is one object in an omics data element
catalogue, it may be omitted as appropriate;
— A data element has one and only one property term. Property term is an essential component of any
data element name. Other terms may be abbreviated as appropriate when the expression of the data
element concept is complete, accurate, and unambiguous;
— A data element has a unique representation term. Redundant words can be removed from the name
when there are duplicates or partial repetitions of the representation term and the property term;
— Qualifier term is optional and is given from particular professional fields.
7 Requirement of code
7.1 Code structure
7.1.1 The structure design shall follow the requirements:
— The structure of the code shall be concise and avoid carrying too much information;
— The structure shall accord with the basic method of information proces
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