ISO/IEC 23092-3:2025
(Main)Information technology — Genomic information representation — Part 3: Metadata and application programming interfaces (APIs)
Information technology — Genomic information representation — Part 3: Metadata and application programming interfaces (APIs)
This document specifies information metadata, metrics metadata, clinical data linkage metadata, auxiliary fields, SAM interoperability, protection metadata and programming interfaces of genomic information. It defines: — metadata storage and interpretation for the different encapsulation levels as specified in ISO/IEC 23092-1 (in REF Section_sec_6 \r \h Clause 6 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000E000000530065006300740069006F006E005F007300650063005F0036000000 ); — metrics metadata containing sequencing data metrics at the dataset and access unit levels as specified in ISO/IEC 23092-1 (in REF Section_sec_7 \r \h Clause 7 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000E000000530065006300740069006F006E005F007300650063005F0037000000 ); — clinical data linkage metadata stored at the dataset group, dataset and annotation table levels as specified in ISO/IEC 23092-1 (in REF Section_sec_8 \r \h Clause 8 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000E000000530065006300740069006F006E005F007300650063005F0038000000 ); — protection elements providing confidentiality, integrity and privacy rules at the different encapsulation levels as specified in ISO/IEC 23092-1 (in REF Section_sec_9 \r \h Clause 9 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000E000000530065006300740069006F006E005F007300650063005F0039000000 ); — how to associate auxiliary fields to encoded reads (in REF Section_sec_10 \r \h Clause 10 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000F000000530065006300740069006F006E005F007300650063005F00310030000000 ); — interfaces to access genomic information coded in compliance with ISO/IEC 23092-1 and ISO/IEC 23092-2 (in REF Section_sec_12 \r \h Clause 12 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000F000000530065006300740069006F006E005F007300650063005F00310032000000 ); — mechanisms for backward compatibility with existing SAM content, and exportation to this format (in Annex E).
Technologie de l'information — Représentation des informations génomiques — Partie 3: Métadonnées et interfaces de programmation d'application (API)
General Information
Relations
Standards Content (Sample)
International
Standard
ISO/IEC 23092-3
Third edition
Information technology — Genomic
2025-05
information representation —
Part 3:
Metadata and application
programming interfaces (APIs)
Technologie de l'information — Représentation des informations
génomiques —
Partie 3: Métadonnées et interfaces de programmation
d'application (API)
Reference number
© ISO/IEC 2025
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© ISO/IEC 2025 – All rights reserved
ii
Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 2
4 Abbreviated terms . 2
5 Conventions . 2
5.1 Character encoding .2
5.2 Bit Ordering .2
5.3 Syntax functions and data types .3
5.4 Graphic notations .3
6 Information metadata . 4
6.1 General .4
6.2 Dataset group metadata .4
6.3 Reference metadata .5
6.4 Dataset metadata .5
6.5 Annotation table metadata .7
6.5.1 General .7
6.5.2 Anotation table general metadata .7
6.5.3 Anotation table analytics metadata .10
6.5.4 Anotation table linkages metadata . 13
6.5.5 Anotation table history metadata .14
6.6 Metadata protection . 15
6.7 Mechanism for extensions of the metadata set .16
6.7.1 General .16
6.7.2 Example for dataset metadata extensions .16
6.7.3 Example for obfuscating labels .16
6.7.4 Example for obfuscating sequences .17
6.8 Metadata profiles .17
6.8.1 General .17
6.8.2 Example of metadata profile — Run.17
6.8.3 Example of metadata profile — Genomic data commons .18
7 Metrics metadata.18
7.1 General .18
7.2 Syntax .18
7.3 Semantics .19
8 Clinical data linkage metadata .20
8.1 General . 20
8.2 CDL Metadata protection . 22
9 Protection metadata .22
9.1 General . 22
9.2 Encryption of gen_info elements and blocks . 23
9.2.1 General . 23
9.2.2 EncryptionParameters carried in dataset group protection . 23
9.2.3 EncryptionParameters carried in dataset protection .24
9.2.4 EncryptionParameters carried in annotation table protection . 28
9.2.5 Key retrieval . 33
9.2.6 Decryption . 34
9.3 Privacy rules for the use of the genomic information . 36
9.3.1 General . 36
9.3.2 Example of use of privacy rules .37
© ISO/IEC 2025 – All rights reserved
iii
9.4 Digital signature of gen_info elements and blocks . 38
9.4.1 General . 38
9.4.2 Signatures carried in dataset group protection . . 38
9.4.3 Signatures carried in dataset protection . 38
9.4.4 Signatures carried in annotation table protection . 40
9.4.5 Signatures carried in descriptor stream protection .42
10 Access unit information .42
10.1 General .42
10.2 genAuxRecord .43
10.3 genAux . 44
10.4 genTag . 44
11 Decoding process for metadata .45
11.1 General .45
11.2 Initialization of parameters .47
11.2.1 General .47
11.2.2 Properties .47
11.2.3 Parameters . 48
11.2.4 Constants .
...
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