ISO/IEC FDIS 23092-3

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ISO/IEC JTC 1/SC 29/WG 11
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Date: 2024-11-15 cm, Footer distance from edge: 1.27 cm
Secretariat: JISC
Date: 2025-02-18
Information technology — Genomic information representation
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Part 3:
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Metadata and application programming interfaces (APIs)
Technologie de l'information — Représentation des informations génomiques — — Formatted
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Partie 3: Métadonnées et interfaces de programmation d'application (API) Formatted: French (France)
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FDIS stage
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© ISO/IEC 2025 – All rights reserved
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Contents
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Foreword .vii
Introduction . ix
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 2
4 Abbreviated terms . 2
5 Conventions . 2
6 Information metadata . 4
7 Metrics metadata . 21
8 Clinical data linkage metadata . 24
9 Protection metadata . 26
10 Access unit information . 50
11 Decoding process for metadata . 55
12 Application programming interfaces (APIs) . 73
Annex A (normative) XML schemas corresponding to metadata information and protection
elements . 121
Annex B (informative) Example use cases of annotation table linkages metadata . 123
Annex C (informative) XML schemas and XML-based data . 125
Annex D (informative) Example of key transport . 141
Annex E (informative) SAM interoperability . 146
Bibliography . 154

Foreword . 5
Introduction . 7
1 Scope . 10
2 Normative references . 10
3 Terms and definitions . 11
4 Abbreviated terms . 11
5 Conventions . 11
5.1 Character encoding . 11
5.2 Bit Ordering . 11
5.3 Syntax functions and data types . 12
5.4 Graphic notations . 13
6 Information metadata . 13
6.1 General . 13
6.2 Dataset group metadata . 13
6.3 Reference metadata . 14
6.4 Dataset metadata . 14
6.5 Annotation table metadata . 16
© ISO/IEC 2025 – All rights reserved
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6.5.1 General . 16
6.5.2 Anotation table general metadata. 17
6.5.3 Anotation table analytics metadata . 20
6.5.4 Anotation table linkages metadata . 24
6.5.5 Anotation table history metadata . 25
6.6 Metadata protection . 26
6.7 Mechanism for extensions of the metadata set . 27
6.7.1 General . 27
6.7.2 Example for dataset metadata extensions . 27
6.7.3 Example for obfuscating labels . 27
6.7.4 Example for obfuscating sequences . 27
6.8 Metadata profiles . 28
6.8.1 General . 28
6.8.2 Example of metadata profile — Run . 28
6.8.3 Example of metadata profile — Genomic data commons . 29
7 Metrics metadata . 29
7.1 Syntax . 29
7.2 Semantics . 30
8 Clinical data linkage metadata . 32
8.1 General . 32
8.2 CDL Metadata protection . 34
9 Protection metadata . 34
9.1 General . 34
9.2 Encryption of gen_info elements and blocks . 35
9.2.1 General . 35
9.2.2 EncryptionParameters carried in dataset group protection . 35
9.2.3 EncryptionParameters carried in dataset protection . 36
9.2.4 EncryptionParameters carried in annotation table protection . 41
9.2.5 Key retrieval . 46
9.2.6 Decryption . 47
9.3 Privacy rules for the use of the genomic information . 50
9.3.1 General . 50
9.3.2 Example of use of privacy rules . 51
9.4 Digital signature of gen_info elements and blocks . 52
9.4.1 General . 52
9.4.2 Signatures carried in dataset group protection . 52
9.4.3 Signatures carried in dataset protection . 52
9.4.4 Signatures carried in annotation table protection . 54
9.4.5 Signatures carried in descriptor stream protection . 57
10 Access unit information . 57
10.1 General . 57
10.2 genAuxRecord . 57
10.3 genAux . 59
10.4 genTag . 59
11 Decoding process for metadata . 61
11.1 General . 61
11.2 Initialization of paramet
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