ISO/TS 22692:2020

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.

Informatique génomique — Mesures de contrôle de la qualité pour le séquençage de l'ADN

General Information

• Status: Published
• Publication Date: 04-Oct-2020
• 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: 9060 - Close of review
• Start Date: 04-Jun-2027

Standards Content (Sample)

TECHNICAL ISO/TS
SPECIFICATION 22692
First edition
2020-10
Genomics informatic — Quality
control metrics for DNA sequencing
Informatique génomique — Mesures de contrôle de la qualité pour le
séquençage de l'ADN
Reference number
ISO/TS 22692:2020(E)
©
ISO 2020

---------------------- Page: 1 ----------------------
ISO/TS 22692:2020(E)

COPYRIGHT PROTECTED DOCUMENT
© ISO 2020
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 2020 – All rights reserved

---------------------- Page: 2 ----------------------
ISO/TS 22692:2020(E)

Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 5
5 Quality control metrics for sample preparation . 5
5.1 General . 5
5.2 Sample sequencing type . 5
5.2.1 Sequencing type . 5
5.2.2 Target gene. 5
5.3 Sample information . 5
5.3.1 Specimen type . 5
5.3.2 Sampling date . 6
5.3.3 Specimen origin . 6
5.4 Summary of sample preparation related metrics . 6
6 Quality control metrics for library preparation . 6
6.1 General . 6
6.2 DNA extraction method . 6
6.2.1 DNA extraction kit .
...

TECHNICAL ISO/TS
SPECIFICATION 22692
First edition
Genomics informatic — Quality
control metrics for DNA sequencing
PROOF/ÉPREUVE
Reference number
ISO/TS 22692:2020(E)
©
ISO 2020

---------------------- Page: 1 ----------------------
ISO/TS 22692:2020(E)

COPYRIGHT PROTECTED DOCUMENT
© ISO 2020
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 PROOF/ÉPREUVE © ISO 2020 – All rights reserved

---------------------- Page: 2 ----------------------
ISO/TS 22692:2020(E)

Contents Page
Foreword .v
Introduction .vi
1 Scope . 1
2 Normative references . 1
3 Terms and definitions . 1
4 Abbreviated terms . 4
5 Quality control metrics for sample preparation . 5
5.1 General . 5
5.2 Sample sequencing type . 5
5.2.1 Sequencing type . 5
5.2.2 Target gene. 5
5.3 Sample information . 5
5.3.1 Specimen type . 5
5.3.2 Sampling date . 5
5.3.3 Specimen origin . 6
5.4 Summary of sample preparation related metrics . 6
6 Quality control metrics for library preparation . 6
6.1 General . 6
6.2 DNA extraction method . 6
6.2.1 DNA extraction kit .
...