ISO/TC 215/SC 1 - Genomics Informatics

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

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.

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.

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.

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.

ISO 25720:2009 is applicable to the data exchange format that is designed to facilitate the exchange of the genomic sequence variation data around the world, without forcing change of any database schema. From an informatics perspective, GSVML defines the data exchange format based on XML. The scope of ISO 25720:2009 is the data exchange format, but the database schema itself is outside the scope of this International Standard. From a biological point of view, all genetic sequence variations are taken into consideration and are within the scope of this International Standard, while polymorphisms, especially SNP, are the main focus of this International Standard. In other words, the annotations of variation as clinical concerns and -omics concerns are within the scope of ISO 25720:2009. Though SNPs exist in various biological species, the scope of this International Standard covers the human health associated species as human, cell line, and preclinical animals. The other biological species are outside the scope of ISO 25720:2009. The clinical field is within the scope of this International Standard, but the basic research fields and other scientific fields are outside the scope of ISO 25720:2009. Here, clinical research including drug discovery is within the scope of this International Standard. As for supposed application fields, our main focus is in human health including clinical practice, preventive medicine, translational research and clinical researches.