iTeh StandardsiTeh Standards
EURUSD
Your shopping cart is empty.
ISO

ISO/TS 4424:2023

(Main)

Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing

Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing

This document identifies data elements and metadata to represent the information about tumor mutation burden (TMB) when reporting the value for the biomarker using clinical massive parallel DNA sequencing. This document covers the TMB status and related metadata such as mutation type, sequencing types, and target areas of sequencing from human samples for clinical practice and research. This document is not intended — to define experimental protocols or methods for calculating the value of tumor mutation burden, — for the other biological species, and — for the Sanger sequencing methods.

Informatique génomique — Éléments de données et leurs métadonnées pour décrire les informations relatives à la charge tumorale mutationnelle (TMB) du séquençage massif parallèle d'ADN

General Information

Status
Published
Publication Date
10-Dec-2023
ICS
35.240.80 - IT applications in health care technology
Technical Committee
ISO/TC 215/SC 1 - Genomics Informatics
Drafting Committee
ISO/TC 215/SC 1/WG 1 - Genomics data sharing
Current Stage
6060 - International Standard published
Start Date
11-Dec-2023
Due Date
11-Aug-2023
Completion Date
11-Dec-2023
Ref Project

Buy Standard

ISO/TS 4424:2023 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:11. 12. 2023ISO/TS 4424:2023 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:11. 12. 2023
PreviousNext
Technical specification
ISO/TS 4424:2023 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:11. 12. 2023
English language
20 pages
sale 15% off
Preview
sale 15% off
Preview
ISO/DTS 4424 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:1. 09. 2023ISO/DTS 4424 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:1. 09. 2023
PreviousNext
Draft
ISO/DTS 4424 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:1. 09. 2023
English language
20 pages
sale 15% off
Preview
sale 15% off
Preview
REDLINE ISO/DTS 4424 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:1. 09. 2023REDLINE ISO/DTS 4424 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:1. 09. 2023
PreviousNext
Draft
REDLINE ISO/DTS 4424 - Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing Released:1. 09. 2023
English language
20 pages
sale 15% off
Preview
sale 15% off
Preview

Standards Content (Sample)

TECHNICAL ISO/TS
SPECIFICATION 4424
First edition
2023-12
Genomics informatics — Data
elements and their metadata for
describing the tumor mutation burden
(TMB) information of clinical massive
parallel DNA sequencing
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations relatives à la charge
tumorale mutationnelle (TMB) du séquençage massif parallèle d'ADN
Reference number
ISO/TS 4424:2023(E)
© ISO 2023

---------------------- Page: 1 ----------------------
ISO/TS 4424:2023(E)
COPYRIGHT PROTECTED DOCUMENT
© ISO 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 2023 – All rights reserved

---------------------- Page: 2 ----------------------
ISO/TS 4424:2023(E)
Contents Page
Foreword .v
Introduction . vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 4
5 Tumor mutation burden (TMB) .5
6 Composition of elements for describing TMB on the clinical DNA NGS report .6
6.1 General . 6
6.2 Summary part . 6
6.3 Detail part . 6
7 Fields and their nomenclature of required data . 6
7.1 General . 6
7.2 Clinical sequencing order . . 7
7.2.1 General . 7
7.2.2 Clinical sequencing order code . 7
7.2.3 Date and time . 7
7.3 Information on subject of care . 8
7.3.1 General .
...

FINAL
TECHNICAL ISO/DTS
DRAFT
SPECIFICATION 4424
ISO/TC 215/SC 1
Genomics informatics — Data
Secretariat: KATS
elements and their metadata for
Voting begins on:
2023-09-15 describing the tumor mutation burden
(TMB) information of clinical massive
Voting terminates on:
2023-11-10
parallel DNA sequencing
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations relatives à la charge
tumorale mutationnelle (TMB) du séquençage massif parallèle d'ADN
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/DTS 4424:2023(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 2023

---------------------- Page: 1 ----------------------
ISO/DTS 4424:2023(E)
FINAL
TECHNICAL ISO/DTS
DRAFT
SPECIFICATION 4424
ISO/TC 215/SC 1
Genomics informatics — Data
Secretariat: KATS
elements and their metadata for
Voting begins on:
describing the tumor mutation burden
(TMB) information of clinical massive
Voting terminates on:
parallel DNA sequencing
Informatique génomique — Éléments de données et leurs
métadonnées pour décrire les informations relatives à la charge
tumorale mutationnelle (TMB) du séquençage massif parallèle d'ADN
COPYRIGHT PROTECTED DOCUMENT
© ISO 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/DTS 4424:2023(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 2023 – All rights reserved
NATIONAL REGULATIONS. © ISO 2023

---------------------- Page: 2 ----------------------
ISO/DTS 4424:2023(E)
Contents Page
Foreword .v
Introduction . vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 4
5 Tumor mutation burden (TMB) .5
6 Composition of elements for describing TMB on the clinical DNA NGS report .6
6.1 General . 6
6.2 Summary part . 6
6.3 Detail part .
...

Formatted
...
Style Definition
...
© ISO #### – All rights reserved
Style Definition
...
Style Definition
...
ISO/CD TS DTS 4424
Style Definition
...
Style Definition
...
ISO /TC 215/SC 1/WG 1
Style Definition
...
Secretariat: KATS
Style Definition
...
Style Definition
Date: 2023-09-01
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Genomics Informatics informatics — Data Elementselements and
Style Definition
...
their Metadatametadata for Describingdescribing the Tumor
Style Definition
...
Mutation Burdentumor mutation burden (TMB)
Style Definition
...
Informationinformation of Clinical Massive Parallelclinical
Style Definition
...
massive parallel DNA Sequencingsequencing
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...

Style Definition
...
Style Definition
...
Style Definition
...
CDInformatique génomique — Éléments de données et leurs métadonnées pour décrire les
Style Definition
...
informations relatives à la charge tumorale mutationnelle (TMB) du séquençage massif parallèle d'ADN
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
Style Definition
...
FDIS stage
Style Definition
...
Style Definition
...

Style Definition
...
Warning for WDs and CDs
Style Definition
...
This document is not an ISO International Standard. It is distributed for review and comment. It is subject to
Style Definition
...
change without notice and may not be referred to as an International Standard.
Style Definition
...
Recipients of this draft are invited to submit, with their comments, notification of any relevant patent rights of
Style Definition
which they are aware and to provide supporting documentation. .
Style Definition
...
Style Definition
...
Formatted
...
Formatted
...
Formatted
...
Formatted
...

---------------------- Page: 1 ----------------------
ISO #####-#:####(X)
To help you, this guide on writing standards was produced by the ISO/TMB and is available at
https://www.iso.org/iso/how-to-write-standards.pdf
A model manuscript of a draft International Standard (known as “The Rice Model”) is available at
https://www.iso.org/iso/model_document-rice_model.pdf

2 © ISO #### – All rights reserved

---------------------- Page: 2 ----------------------
© ISO #### – All rights reserved
Formatted: Font: Bold
© ISO 20XX
Formatted: Space Before: 0 pt, After: 0 pt
© ISO 2023 – All rights reserved

---------------------- Page: 3 ----------------------
ISO/CD TSDTS 4424:(E)
Formatted: Font: 11 pt, Bold
Formatted: Space After: 0 pt, Line spacing: single
Formatted: Font: 11 pt, Bold
© ISO 2023
Formatted: Font: 11 pt, Bold
All rights reserved. Unless otherwise specified, or required in the context of its implementation, no part of this Formatted: Left: 1.9 cm, Right: 1.9 cm, Bottom: 1 cm,
publication may be reproduced or utilized otherwise in any form or by any means, electronic or mechanical, Gutter: 0 cm, Header distance from edge: 1.27 cm,
Footer distance from edge: 0.5 cm
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.
Formatted: Indent: Left: 0 cm, Right: 0 cm, Adjust
space between Latin and Asian text, Adjust space
ISO copyright office
between Asian text and numbers
CP 401 • Ch. de Blandonnet 8
CH-1214 Vernier, Geneva
Phone: + 41 22 749 01 11
Formatted: French (Switzerland)
EmailE-mail: copyright@iso.org
Formatted: French (Switzerland)
Website: www.iso.orgwww.iso.org
Formatted: French (Switzerland)
Published in Switzerland
Formatted: Space After: 0 pt, Line spacing: single
Formatted: Font: 11 pt
Formatted: Font: 11 pt
iv © ISO #### 2023 – All rights reserved

---------------------- Page: 4 ----------------------
ISO/CD TS DTS 4424:(E)
Formatted: Font: 11 pt, Bold
Formatted: Left, Space After: 0 pt, Line spacing: single
Formatted: Font: 11 pt, Bold
Contents
Formatted: Font: 11 pt, Bold
Foreword . ix
Introduction . x
1 Scope . 1
2 Normative references . 1
3 Terms and definitions .
...

Questions, Comments and Discussion

Ask us and Technical Secretary will try to provide an answer. You can facilitate discussion about the standard in here.

This May Also Interest You

ISO
ISO/TS 8376:2023(Main)
Genomics informatics — Requirements for interoperable systems for genomic surveillance

This document outlines the design principles and the service and standards requirements to enable an interoperable system for genomic surveillance (herein referred to as “federated surveillance system”), including data representation, discovery and analysis, and data linkage. Using select profiles this document applies to genomics digital systems, networks and platforms that enable a federated approach for researchers, clinicians, and patients in both the private and public sector at the local, regional, and international levels.

  • Technical specification
    13 pages
    English language
    sale 15% off
  • Draft
    13 pages
    English language
    sale 15% off
  • Draft
    13 pages
    English language
    sale 15% off
ISO
ISO/TS 23357:2023(Main)
Genomics informatics — Clinical genomics data sharing specification for next-generation sequencing

This document specifies clinical sequencing information generated by massive parallel sequencing technology for sharing health information via massively parallel sequencing. This document covers the data fields and their metadata from the generation of sequence reads and base calling to variant evaluation and assertion for archiving reproducibility during health information exchange of clinical sequence information. However, the specimen collection, processing and storage, DNA extraction and DNA processing and library preparation, and the generation of test report are not in the scope of this document. This document hence defines the data types, relationship, optionality, cardinalities and bindings of terminology of the data. In essence, this document specifies: — the required data fields and their metadata from generation of sequence reads and base calling to variant evaluation and assertion for sharing clinical genomic sequencing data files generated by massively parallel sequencing technology, as shown in Figure 1; — the sequencing information from human samples using DNA sequencing by massively parallel sequencing technologies for clinical practice.

  • Technical specification
    14 pages
    English language
    sale 15% off
  • Draft
    14 pages
    English language
    sale 15% off
  • Draft
    14 pages
    English language
    sale 15% off
ISO
ISO/TS 8392:2023(Main)
Genomics informatics — Description rules for genomic data for genetic detection products and services

This document specifies requirements on the category definition and quality assessment of genomic data, including the content structure, attribute and description rules of data format, and the compilation rules of data format. This document applies to all the genomic data used for human genetic detection products and services. This document applies to genomic data processing and analysis, and to the quality evaluation/assessment of genomic data.

  • Technical specification
    17 pages
    English language
    sale 15% off
  • Draft
    13 pages
    English language
    sale 15% off
  • Draft
    17 pages
    English language
    sale 15% off
  • Draft
    13 pages
    English language
    sale 15% off
  • Draft
    17 pages
    English language
    sale 15% off
ISO
ISO/TS 4425:2023(Main)
Genomics informatics — Data elements and their metadata for describing the microsatellite instability (MSI) information of clinical massive parallel DNA sequencing

This document identifies data elements and metadata to represent the information about microsatellite instability (MSI) for reporting the value of the biomarker using clinical massive parallel DNA sequencing. This document covers information about the MSI test result and related data, such as used resources, data generation condition, and data processing information which are helpful to clinical diagnosis and research. This document is not intended — for defining experimental protocols or methods for calculating the value of microsatellite instability (MSI), — for the other biological species than human resource, or — for the Sanger sequencing methods.

  • Technical specification
    20 pages
    English language
    sale 15% off
  • Draft
    21 pages
    English language
    sale 15% off
  • Draft
    21 pages
    English language
    sale 15% off
ISO
ISO 4454:2022(Main)
Genomics informatics — Phenopackets: A format for phenotypic data exchange

This document specifies a uniform, machine-readable, phenotypic description of an individual, patient or sample in the context of rare disease, common/complex disease or cancer. It is applicable to academic, clinical and commercial research, as well as clinical diagnostics. While intended for human data collection, it can be used in other areas (e.g. mouse research). It does not define the phenotypic information that needs to be collected for a particular use but represents that information in an appropriately descriptive manner that allows it to be computationally exchanged between systems.

  • Standard
    86 pages
    English language
    sale 15% off
ISO
ISO/TS 22690:2021(Main)
Genomics informatics — Reliability assessment criteria for high-throughput gene-expression data

This document specifies reliability assessment criteria for high-throughput gene-expression data. It is applicable to assessing the accuracy, reproducibility, and comparability of gene-expression data that are generated from microarray, next-generation sequencing, and other forms of high-throughput technologies. This document identifies the quality-related data for the process of the next-generation sequencing of RNA (RNA-seq). The sequencing platform covered by this document is limited to short-read sequencers. The use of RNA-seq for mutation detection and virus identification is outside of the scope of this document. This document is applicable to human health associated species such as human, cell lines, and preclinical animals. Other biological species are outside the scope of this document. From a biological point of view, expression profiles of all genetic sequences including genes, transcripts, isoforms, exons, and junctions are within the scope of this document

  • Technical specification
    11 pages
    English language
    sale 15% off
  • Draft
    11 pages
    English language
    sale 15% off
ISO
ISO 21393:2021(Main)
Genomics informatics — Omics Markup Language (OML)

This document is applicable to the data exchange format that is designed to facilitate exchanging omics data around the world without forcing changes of any database schema. This document specifies the characteristics of OML from the following perspectives. From an informatics perspective, OML defines the data exchange format based on XML. This document gives guidelines for the specifications of the data exchange format, but this document excludes the database schema itself. From a molecular side of view, this document is applicable to all kinds of omics data, while this document excludes the details of the molecules (e.g., details of genomic sequence variations or whole genomic sequence). This document is also applicable to the molecular annotations including clinical concerns and relations with other omics concerns. From an application side of view, this document is applicable to the clinical field including clinical practice, preventive medicine, translational research, and clinical research including drug discovery. This document does not apply to basic research and other scientific fields. From a biological species side of view, this document is applicable to the human health-associated species as human, preclinical animals, and cell lines. This document does not apply to the other biological species.

  • Standard
    46 pages
    English language
    sale 15% off
  • Standard
    48 pages
    French language
    sale 15% off
  • Draft
    48 pages
    English language
    sale 15% off
ISO
ISO/TS 22693:2021(Main)
Genomics informatics — Structured clinical gene fusion report in electronic health records

The document defines the data elements and their necessary metadata to implement a structured clinical gene fusion report whose data are generated by next generation sequencing technologies. This document — describes the reporting guideline for RNA sequencing approaches focusing on detecting novel and known fusion partners, — defines the required data fields and their metadata for a structured clinical gene fusion report, — defines the optional data fields and their metadata, — covers the fusion gene from human specimen using whole transcriptome sequencing by next generation sequencing technologies for clinical practice and translational research, — does not cover the fusion gene detection using DNA sequencing methods, — does not cover the basic research and other scientific areas, — does not cover the other biological species, — does not cover the Sanger sequencing methods, and — does not cover the other structural variations. This document only defines the data elements and their metadata for the structured clinical sequencing report in electronic health records. Therefore, its layout can be designed based on the institutional decision if all elements are included as in this document.

  • Technical specification
    21 pages
    English language
    sale 15% off
  • Draft
    21 pages
    English language
    sale 15% off
ISO
ISO/TS 22692:2020(Main)
Genomics informatics— Quality control metrics for DNA sequencing

This document identifies quality metrics for the detection of DNA variants using next generation sequencing (NGS) technology. It also defines the data types, relationships, optionality, cardinalities and terminology bindings of the data. This document provides a basis for sharing and for the application of "high quality" genomic data and contributes to the realization of the precision medicine and the development of relevant industries. This document is intended to serve as a catalogue of sequencing data elements used to address quality metrics for various clinical, industrial and commercial applications. The exchange of these data allows researchers, commercial entities, and regulatory bodies to assess for the purpose of selective utilization of the data by setting application-specific quality criteria This document is not intended for — sequencing methods other than NGS, such as the Sanger sequencing, — targets other than genome, such as transcriptome or proteome, or — specimens of species other than humans.

  • Technical specification
    15 pages
    English language
    sale 15% off
  • Draft
    15 pages
    English language
    sale 15% off
ISO
ISO/TS 20428:2017(Main)
Health informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records

ISO/TS 20428:2017 defines the data elements and their necessary metadata to implement a structured clinical genomic sequencing report and their metadata in electronic health records particularly focusing on the genomic data generated by next generation sequencing technology. ISO/TS 20428:2017 - defines the composition of a structured clinical sequencing report (see Clause 5), - defines the required data fields and their metadata for a structured clinical sequencing report (see Clause 6), - defines the optional data (see Clause 7), - covers the DNA-level variation from human samples using whole genome sequencing, whole exome sequencing, and targeted sequencing (disease-targeted gene panels) by next generation sequencing technologies. Though whole transcriptome sequencing and other technologies are important to provide better patient care and enable precision medicine, this document only deals with DNA-level changes, - covers mainly clinical applications and clinical research such as clinical trials and translational research which uses clinical data. However, the necessary steps such as de-identification or consent from patient should be applied. The basic research and other scientific areas are outside the scope of this document, - does not cover the other biological species, i.e. genomes of viruses and microbes, and - does not cover the Sanger sequencing methods.

  • Technical specification
    33 pages
    English language
    sale 15% off