Information technology — Genomic information representation — Part 3: Metadata and application programming interfaces (APIs)

This document specifies information 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 Clause 6); — protection elements providing confidentiality, integrity and privacy rules at the different encapsulation levels specified in ISO/IEC 23092-1 (in Clause 7); — how to associate auxiliary fields to encoded reads (in Clause 8); — mechanisms for backward compatibility with existing SAM content, and exportation to this format (in Annex C); — interfaces to access genomic information coded in compliance with ISO/IEC 23092-1 and ISO/IEC 23092-2 (in subclause 8.1).

Technologie de l'information — Représentation des informations génomiques — Partie 3: Métadonnées et interfaces de programmation d'application (API)

General Information

Status
Published
Publication Date
24-Oct-2022
Current Stage
9092 - International Standard to be revised
Start Date
24-Jul-2023
Completion Date
24-Jul-2023
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ISO/IEC 23092-3:2022 - Information technology — Genomic information representation — Part 3: Metadata and application programming interfaces (APIs) Released:25. 10. 2022
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INTERNATIONAL ISO/IEC
STANDARD 23092-3
Second edition
2022-10
Information technology — Genomic
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 2022
© ISO/IEC 2022
All rights reserved. Unless otherwise specified, or required in the context of its implementation, no part of this publication may
be reproduced or utilized otherwise in any form or by any means, electronic or mechanical, including photocopying, or posting on
the internet or an intranet, without prior written permission. Permission can be requested from either ISO at the address below
or ISO’s member body in the country of the requester.
ISO copyright office
CP 401 • Ch. de Blandonnet 8
CH-1214 Vernier, Geneva
Phone: +41 22 749 01 11
Email: copyright@iso.org
Website: www.iso.org
Published in Switzerland
ii
© ISO/IEC 2022 – All rights reserved

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 Metadata protection . 7
6.6 Mechanism for extensions of the metadata set . 7
6.6.1 General . 7
6.6.2 Example for dataset metadata extensions . 8
6.6.3 Example for obfuscating labels . 8
6.6.4 Example for obfuscating sequences . 8
6.7 Metadata profiles . 8
6.7.1 General . 8
6.7.2 Example of metadata profile — Run. 8
6.7.3 Example of metadata profile — Genomic data commons . 9
7 Protection metadata .10
7.1 General . 10
7.2 Encryption of gen_info elements and blocks . 10
7.2.1 General . 10
7.2.2 EncryptionParameters carried in dataset group protection . 10
7.2.3 EncryptionParameters carried in dataset protection .12
7.2.4 Key retrieval .15
7.2.5 Decryption . 16
7.3 Privacy rules for the use of the genomic information . 18
7.3.1 General . 18
7.3.2 Example of use of privacy rules . 19
7.4 Digital signature of gen_info elements and blocks . 19
7.4.1 General . 19
7.4.2 Signatures carried in dataset group protection . . 19
7.4.3 Signatures carried in dataset protection . 20
7.4.4 Signatures carried in access unit protection . 21
7.4.5 Signatures carried in descriptor stream protection .22
8 Access unit information .22
8.1 General .22
8.2 genAuxRecord . 22
8.3 genAux . 24
8.4 genTag . 24
9 Decoding process for metadata .25
9.1 General . 25
9.2 Initialization of parameters . 26
iii
© ISO/IEC 2022 – All rights reserved

9.2.1 General . 26
9.2.2 Properties . 26
9.2.3 Parameters . 27
9.2.4 Constants .28
9.2.5 Process .28
9.3 Macros . 30
9.4 Decoding process . 32
10 Application programming interfaces (APIs) .40
10.1 General .40
10.2 Structure of the API.40
10.3 Detailed specification of the API .40
10.3.1 Data types .40
10.3.2 Return codes . 41
10.3.3 Metadata fields . . 41
10.3.4 Output structures . 42
10.3.5 Filters.49
10.3.6 Genomic information . 53
10.3.7 Metadata .58
10.3.8 Protection . 59
10.3.9 Reference . 61
10.3.10 Statistics .
...

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