ISO/TS 8392:2023 ゲノミクス情報学 — 遺伝子検出製品およびサービスのためのゲノムデータの記述ルール | ページ 2

Foreword

ISO (the International Organization for Standardization) is a worldwide federation of national standards bodies (ISO member bodies). The work of preparing International Standards is normally carried out through ISO technical committees. Each member body interested in a subject for which a technical committee has been established has the right to be represented on that committee. International organizations, governmental and non-governmental, in liaison with ISO, also take part in the work. ISO collaborates closely with the International Electrotechnical Commission (IEC) on all matters of electrotechnical standardization.

The procedures used to develop this document and those intended for its further maintenance are described in the ISO/IEC Directives, Part 1. In particular, the different approval criteria needed for the different types of ISO documents should be noted. This document was drafted in accordance with the editorial rules of the ISO/IEC Directives, Part 2 (see www.iso.org/directives ).

Attention is drawn to the possibility that some of the elements of this document may be the subject of patent rights. ISO shall not be held responsible for identifying any or all such patent rights. Details of any patent rights identified during the development of the document will be in the Introduction and/or on the ISO list of patent declarations received (see www.iso.org/patents ).

Any trade name used in this document is information given for the convenience of users and does not constitute an endorsement.

For an explanation of the voluntary nature of standards, the meaning of ISO specific terms and expressions related to conformity assessment, as well as information about ISO's adherence to the World Trade Organization (WTO) principles in the Technical Barriers to Trade (TBT), see www.iso.org/iso/foreword.html .

This document was prepared by Technical Committee ISO/TC 215, Health informatics, Subcommittee SC 1, Genomics informatics.

Introduction

The decreasing cost of sequencing and the gradual in-depth study of genomics have led to the generation of more and more genomic data, but the data quality in genomics is not optimal. From the dimension of data level, there is a lack of data integrity, and medical information has been facing a problem of semantic disunity. These problems have caused great obstacles to downstream applications.

Standardization of data is a prerequisite for data asset management and data storage and applications, which can give better storage for genomic data and enlarge these genomic data used in precision medicine.

This document is based on the actual situation of industry data production, combined with the needs of upstream and downstream industry users. It also takes into account the use made by stakeholders and user friendliness for all common types of genomic data. Solving the problem of data scope and semantic unification can enhance the data association ability, ensure information exchange, improve data flow, improve the data quality from the aspects of data integrity and data validity, and lay a good foundation for subsequent data storage, data application and data sharing.

1 Scope

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.

2 Normative references

There are no normative references in this document.

3 Terms and definitions

For the purposes of this document, the following terms and definitions apply.

ISO and IEC maintain terminology databases for use in standardization at the following addresses:

Bibliography