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).

Technologie de l'information — Représentation des informations génomiques — Partie 6: Titre manque

General Information

Status
Published
Publication Date
13-Nov-2023
Current Stage
6060 - International Standard published
Start Date
14-Nov-2023
Due Date
09-Feb-2023
Completion Date
14-Nov-2023
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ISO/IEC 23092-6:2023 - Information technology — Genomic information representation — Part 6: Coding of genomic annotations Released:14. 11. 2023
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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 2023
© 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

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 . 15
5.13.1 General .15
5.13.2 Process output operators . 15
5.14 Method of specifying syntax in tabular form . . 16
5.15 Bit ordering . 17
5.16 Specification of syntax functions and data types . 17
5.17 Semantics . 17
6 Data Structures .18
6.1 General . 18
6.2 Data unit . 18
6.3 Annotation parameter set . 19
6.3.1 General . 19
6.3.2 Tile configuration . 20
6.3.3 Annotation encoding parameters . 23
6.3.4 Descriptor configuration . 24
6.3.5 Compressor parameter set . 31
6.3.6 Attribute parameter set . 32
6.4 Annotation access unit .34
6.4.1 General .34
6.4.2 Annotation access unit header . 35
6.4.3 Annotation access unit types .36
6.4.4 Block . 37
7 Descriptors and attributes semantics .46
7.1 General .46
7.2 Descriptors.48
7.2.1 General .48
7.2.2 Genomic intervals . .48
7.2.3 Genomic variants .48
7.2.4 Functional annotations .48
7.2.5 Contact matrices .48
7.3 Attributes .48
7.4 Data types .48
7.4.1 General .48
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© ISO/IEC 2023 – All rights reserved

7.4.2 Typed data .49
8 Decompression codecs .50
8.1 General .50
8.2 Inverse transformation algorithms . 52
8.2.1 General . 52
8.2.2 Lempel-Ziv-Welch transform . 52
8.2.3 Binarization transform. 53
8.2.4 Sparse transform .54
8.2.5 Delta transform .55
8.2.6 Run-Length Encoding transform . 57
8.2.7 Serialization transform . 57
8.3 Decompression algorithms.58
8.3.1 General .58
8.3.2 Context-Adaptive Binary Arithmetic Coding . 59
8.3.3 Lempel-Ziv-Markov Chain Algorithm . 59
8.3.4 Zstandard. 59
8.3.5 JBIG . 59
8.3.6 Block Sorting Coder .60
9 Decoding process .60
9.1 General .
...

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