ISO/IEC 23092-6:2023
(Main)Information technology — Genomic information representation — Part 6: Coding of genomic annotations
Information technology — Genomic information representation — Part 6: Coding of genomic annotations
This document provides specifications for the normative representation of the following types of genomic information: — variants with genotyping information — functional annotations — tracks — expression matrices — contact matrices (from Hi-C experiments or similar).
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INTERNATIONAL ISO/IEC
STANDARD 23092-6
First edition
2023-11
Information technology — Genomic
information representation —
Part 6:
Coding of genomic annotations
Reference number
ISO/IEC 23092-6:2023(E)
© ISO/IEC 2023
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ISO/IEC 23092-6:2023(E)
COPYRIGHT PROTECTED DOCUMENT
© ISO/IEC 2023
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 2023 – All rights reserved
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ISO/IEC 23092-6:2023(E)
Contents Page
Foreword . vi
Introduction .vii
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 8
5 Conventions . 8
5.1 General . 8
5.2 Logical operators . 8
5.3 Arithmetic operators . 9
5.4 Relational operators . 9
5.5 Bit-wise operators . 9
5.6 Assignment operators . 10
5.7 Range notation . 10
5.8 Mathematical functions . 10
5.9 Array and strings operation functions . 11
5.10 Order of operation precedence . 11
5.11 Variables, syntax elements and tables.12
5.12 Text description of logical operators . 13
5.13 Processes .
...
FINAL
INTERNATIONAL ISO/IEC
DRAFT
STANDARD FDIS
23092-6
ISO/IEC JTC 1/SC 29
Information technology — Genomic
Secretariat: JISC
information representation —
Voting begins on:
2023-08-07
Part 6:
Voting terminates on:
Coding of genomic annotations
2023-10-02
RECIPIENTS OF THIS DRAFT ARE INVITED TO
SUBMIT, WITH THEIR COMMENTS, NOTIFICATION
OF ANY RELEVANT PATENT RIGHTS OF WHICH
THEY ARE AWARE AND TO PROVIDE SUPPOR TING
DOCUMENTATION.
IN ADDITION TO THEIR EVALUATION AS
Reference number
BEING ACCEPTABLE FOR INDUSTRIAL, TECHNO-
ISO/IEC FDIS 23092-6:2023(E)
LOGICAL, COMMERCIAL AND USER PURPOSES,
DRAFT INTERNATIONAL STANDARDS MAY ON
OCCASION HAVE TO BE CONSIDERED IN THE
LIGHT OF THEIR POTENTIAL TO BECOME STAN-
DARDS TO WHICH REFERENCE MAY BE MADE IN
NATIONAL REGULATIONS. © ISO/IEC 2023
---------------------- Page: 1 ----------------------
ISO/IEC FDIS 23092-6:2023(E)
FINAL
INTERNATIONAL ISO/IEC
DRAFT
STANDARD FDIS
23092-6
ISO/IEC JTC 1/SC 29
Information technology — Genomic
Secretariat: JISC
information representation —
Voting begins on:
Part 6:
Voting terminates on:
Coding of genomic annotations
COPYRIGHT PROTECTED DOCUMENT
© ISO/IEC 2023
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.
RECIPIENTS OF THIS DRAFT ARE INVITED TO
ISO copyright office
SUBMIT, WITH THEIR COMMENTS, NOTIFICATION
OF ANY RELEVANT PATENT RIGHTS OF WHICH
CP 401 • Ch. de Blandonnet 8
THEY ARE AWARE AND TO PROVIDE SUPPOR TING
CH-1214 Vernier, Geneva
DOCUMENTATION.
Phone: +41 22 749 01 11
IN ADDITION TO THEIR EVALUATION AS
Reference number
Email: copyright@iso.org
BEING ACCEPTABLE FOR INDUSTRIAL, TECHNO
ISO/IEC FDIS 230926:2023(E)
Website: www.iso.org
LOGICAL, COMMERCIAL AND USER PURPOSES,
DRAFT INTERNATIONAL STANDARDS MAY ON
Published in Switzerland
OCCASION HAVE TO BE CONSIDERED IN THE
LIGHT OF THEIR POTENTIAL TO BECOME STAN
DARDS TO WHICH REFERENCE MAY BE MADE IN
ii
© ISO/IEC 2023 – All rights reserved
NATIONAL REGULATIONS. © ISO/IEC 2023
---------------------- Page: 2 ----------------------
ISO/IEC FDIS 23092-6:2023(E)
Contents Page
Foreword . vi
Introduction .vii
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 8
5 Conventions . 8
5.1 General . 8
5.2 Logical operators . 8
5.3 Arithmetic operators . 9
5.4 Relational operators . 9
5.5 Bitwise operators .
...
f ISO/IEC JTC 1/SC 29/WG 08
N154
ISO/IEC JTC 1/SC 29/WG 08
MPEG Genomic Coding
Convenorship: SNV (Switzerland)
Document type: Output Document
Title: Revised Text of ISO/IEC FDIS 23092-6
ISO/IEC JTC 1/SC 29
Secretariat: JISC
Date: 2023-06-17
Information technology — Genomic information
representation —
Part 6:
Coding of genomic annotations
Status: Approved
Date of document: 2023-03-20
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Source: ISO/IEC JTC 1/SC 29/WG 08
No. of pages: 134 (with cover page)
Email of Convenor: marco . mattavelli @ epfl . ch
Committee URL: https://isotc.iso.org/livelink/livelink/open/jtc1sc29wg8
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INTERNATIONAL ORGANIZATION FOR STANDARDIZATION
ORGANISATION INTERNATIONALE DE NORMALISATION
ISO/IEC JTC 1/SC 29/WG 08 MPEG GENOMIC CODING
ISO/IEC JTC 1/SC 29/WG 08 N154
January 2023, Virtual
Revised Text of ISO/IEC FDIS 23092-6 Coding of genomic annotations
Title
Source WG 08, MPEG Genomic Coding
Status Approved
Serial Number 22416
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© ISO 23092-6 – All rights reserved
ISO/IEC 23092-6
ISO JTC 1/SC 29/WG 08
Secretariat: XXXX
Information Technology — ISO/IEC 23092 — Part 6: Coding of
Genomic Annotations
FDIS stage
Warning for WDs and CDs
This specification is not an ISO International Standard. It is distributed for review and comment. It is
subject to change without notice and may not be referred to as an International Standard.
Recipients of this draft are invited to submit, with their comments, notification of any relevant patent
rights of which they are aware and to provide supporting documentation.
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ISO/IEC CD 23092-6
© ISO 2022, Published in Switzerland
6 © ISO/IEC 2018 – All rights reserved
---------------------- Page: 5 ----------------------
ISO /IEC FDIS 23092-6:####(X:2023(E)
© ISO/IEC 2023
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 • CP 401
CH-1214 Vernier, Geneva, Switzerland
Tel. Phone: + 41 22 749 01 11
Fax + 41 22 749 09 47
E-mail: copyright@iso.org
www.iso.orgWebsite: www.iso.org
© ISO #### /IEC 2023 – All rights reserved vii
---------------------- Page: 6 ----------------------
ISO/IEC DIS FDIS 23092-6:2023(E)
Published in Switzerland
viii © ISO #### /IEC 2023 – All rights reserved
---------------------- Page: 7 ----------------------
ISO /IEC FDIS 23092-6:####(X:2023(E)
Contents
Foreword xv
Introduction xvi
1 Scope 1
2 Normative references 1
3 Terms and definitions 2
4 Abbreviated terms 11
5 Conventions 12
5.1 General 12
5.2 Logical operators 12
5.3 Arithmetic operators 12
5.4 Relational operators 13
5.5 Bit-wise operators 14
5.6 Assignment operators 15
5.7 Range notation 15
5.8 Mathematical functions 16
5.9 Array and strings operation functions 16
5.10 vertcat(x, y) is the same as concat(x, y, n) when n = 0.Order of operation precedence 17
5.11 Variables, syntax elements and tables 18
5.12 Text description of logical operators 19
5.13 Processes 20
5.13.1 General 20
5.13.2 Process output operators 21
5.14 Method of specifying syntax in tabular form 22
5.15 Bit ordering 23
5.16 Specification of syntax functions and data types 23
5.17 Semantics 23
6 Data Structures 25
6.1 General 25
6.2 Data unit 25
6.3 Annotation parameter set 26
6.3.1 General 26
6.3.2 Tile configuration 28
6.3.3 Annotation encoding parameters 31
6.3.4 Descriptor configuration 32
6.3.5 Compressor parameter set 39
6.3.6 Attribute parameter set 41
6.4 Annotation access unit 43
6.4.1 General 43
© ISO #### /IEC 2023 – All rights reserved ix
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ISO/IEC DIS FDIS 23092-6:2023(E)
6.4.2 Annotation access unit header 44
6.4.3 Annotation access unit types 46
6.4.4 Block 47
7 Descriptors and attributes semantics 57
7.1 General 57
7.2 Descriptors 59
7.2.1 General 59
7.2.2 Genomic intervals 59
7.2.3 Genomic variants 59
7.2.4 Functional annotations 59
7.2.5 Contact matrices 59
7.3 Attributes 59
7.4 Data types 59
7.4.1 General 59
7.4.2 Typed data 60
8 Decompression codecs 61
8.1 General 61
8.2 Inverse transformation algorithms 64
8.2.1 General 64
8.2.2 Lempel-Ziv-Welch transform 64
8.2.3 Binarization transform 66
8.2.4 Sparse transform 67
8.2.5 Delta transform 68
8.2.6 Run-Length Encoding transform 69
8.2.7 Serialization transform 70
8.3 Deco
...
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