ISO/TS 8392:2023

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.

Informatique génomique — Règles de description des données génomiques pour les produits et services de détection génétique

General Information

• Status: Published
• Publication Date: 08-May-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 - Genomics Informatics
• Current Stage: 6060 - International Standard published
• Start Date: 09-May-2023
• Due Date: 25-Oct-2024
• Completion Date: 09-May-2023

Standards Content (Sample)

TECHNICAL ISO/TS
SPECIFICATION 8392
First edition
2023-05
Genomics informatics — Description
rules for genomic data for genetic
detection products and services
Informatique génomique — Règles de description des données
génomiques pour les produits et services de détection génétique
Reference number
ISO/TS 8392:2023(E)
© ISO 2023

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ISO/TS 8392:2023(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: [phone]
Email: [e-mail]
Website: www.iso.org
Published in Switzerland
ii
  © ISO 2023 – All rights reserved

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ISO/TS 8392:2023(E)
Contents Page
Foreword .iv
Introduction .v
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Data format attribute and description rules . 2
5 Composition and rules of genomic data description . 2
5.1 Identifier . 2
5.2 Data format . 2
5.3 Data archiving catalogue . 2
5.4 Metadata . 2
6 Core elements and rules for the description of genomic data . 2
6.1 Identifier . 2
6.2 Name . 3
7 Requirement of code . 3
7.1 Code structure . 3
7.2 Code length . 4
7.3 Code type and format . 4
7.4 Code list naming .
...

FINAL
TECHNICAL ISO/DTS
DRAFT
SPECIFICATION 8392
ISO/TC 215/SC 1
Genomics informatics — Description
Secretariat: KATS
rules for genomic data for genetic
Voting begins on:
2022-09-05 detection products and services
Voting terminates on:
Informatique génomique — Règles de description des données
2022-10-31
génomiques pour les produits et services de détection génétique
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 8392:2022(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 2022

---------------------- Page: 1 ----------------------
ISO/DTS 8392:2022(E)
FINAL
TECHNICAL ISO/DTS
DRAFT
SPECIFICATION 8392
ISO/TC 215/SC 1
Genomics informatics — Description
Secretariat: KATS
rules for genomic data for genetic
Voting begins on:
detection products and services
Voting terminates on:
Informatique génomique — Règles de description des données
génomiques pour les produits et services de détection génétique
COPYRIGHT PROTECTED DOCUMENT
© ISO 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.
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: [phone]
IN ADDITION TO THEIR EVALUATION AS
Reference number
Email: [e-mail]
BEING ACCEPTABLE FOR INDUSTRIAL, TECHNO­
ISO/DTS 8392:2022(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 2022 – All rights reserved
NATIONAL REGULATIONS. © ISO 2022

---------------------- Page: 2 ----------------------
ISO/DTS 8392:2022(E)
Contents Page
Foreword .iv
Introduction .v
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Data format attribute and description rules . 2
5 Composition and rules of genomic data description . 2
5.1 Identifier . 2
5.2 Data format . 2
5.3 Data archiving catalogue . 2
5.4 Metadata . 2
6 Core elements and rules for the descript
...

FINAL
TECHNICAL ISO/DTS
DRAFT
SPECIFICATION 8392.2
ISO/TC 215/SC 1
Genomics informatics — Description
Secretariat: KATS
rules for genomic data for genetic
Voting begins on:
2023-01-12 detection products and services
Voting terminates on:
Informatique génomique — Règles de description des données
2023-03-09
génomiques pour les produits et services de détection génétique
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 8392.2:2023(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 8392.2:2023(E)
FINAL
TECHNICAL ISO/DTS
DRAFT
SPECIFICATION 8392.2
ISO/TC 215/SC 1
Genomics informatics — Description
Secretariat: KATS
rules for genomic data for genetic
Voting begins on:
detection products and services
Voting terminates on:
Informatique génomique — Règles de description des données
génomiques pour les produits et services de détection génétique
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: [phone]
IN ADDITION TO THEIR EVALUATION AS
Reference number
Email: [e-mail]
BEING ACCEPTABLE FOR INDUSTRIAL, TECHNO­
ISO/DTS 8392.2:2023(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 8392.2:2023(E)
Contents Page
Foreword .iv
Introduction .v
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Data format attribute and description rules . 2
5 Composition and rules of genomic data description . 2
5.1 Identifier . 2
5.2 Data format . 2
5.3 Data archiving catalogue . 2
5.4 Metadata . 2
6 Core elements and rules for
...

© ISO #### – All rights reserved
ISO #####-#:####(X/DTS 8392 2022(E)
Date: 2022-08-15
ISO/TC ###/ 215/SC ##/WG # 1
Secretariat: XXXXKATS
Genomics informatics — Description rules for genomic data for genetic detection products and
services

WD/CD/DIS/FDIS stage

Warning for WDs and CDs
This document 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.
To help you, this guide on writing standards was produced by the ISO/TMB and is available at
A model manuscript of a draft International Standard (known as “The Rice Model”) is available at

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© ISO 20XX

---------------------- Page: 2 ----------------------
ISO #####-#:####(X/DTS 8392:2022(E)
© ISO 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: [phone]
Fax: [phone]
Email: [e-mail]
Website: www.iso.orgwww.iso.org
Published in Switzerland
© ISO #### – All rights reserved
iv © ISO 2022 – All rights reserved

---------------------- Page: 3 ----------------------
ISO #####-#:####(X/DTS 8392:2022(E)
Contents
Foreword . v
Introduction. vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Data format attribute and description rules . 2
5 Composition and rules of genomic data description . 2
5.1 Data format . 2
5.2 Data archiving catalogue . 3
5.3 Metadata . 3
6 Core elements and rules for the description of genomic data . 3
6.1 Identifer . 3
6.2 Name . 4
7 Requirement of code . 4
7.1 Code structure . 4
7.2 Code length . 5
7.3 Code type and format . 5
7.4 Code list naming . 6
8 Compatibility with other rules . 6
Annex A .
...

ISO/DTS 8392 2022.2:2023 (E)
Date: 2022-08-152023-01-05
ISO/TC 215/SC 1
Secretariat: KATS
Genomics informatics — Description rules for genomic data for genetic detection products and
services

---------------------- Page: 1 ----------------------
ISO/DTS 8392:2022.2:2023 (E)
© ISO 20222023
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: [phone]
Fax: [phone]
Email: [e-mail]
Website: www.iso.org
Published in Switzerland
ii © ISO 20222023 – All rights reserved

---------------------- Page: 2 ----------------------
ISO/DTS 8392:2022.2:2023 (E)
Contents
Foreword . v
Introduction. vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Data format attribute and description rules . 2
5 Composition and rules of genomic data description . 2
5.1 Data format . 2
5.2 Data archiving catalogue . 3
5.3 Metadata . 3
6 Core elements and rules for the description of genomic data . 3
6.1 Identifer . 3
6.2 Name . 4
7 Requirement of code . 4
7.1 Code structure . 4
7.2 Code length . 5
7.3 Code type and format . 5
7.4 Code list naming . 6
8 Compatibility with other rules . 6
Annex A . 7
Annex B . 10
Annex C . 12
Annex D (informative) Formula . 15

© ISO 20222023 – All rights reserved iii

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ISO/DTS 8
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