Overview - ISO/TS 22690:2021 (Genomics informatics)
ISO/TS 22690:2021 specifies reliability assessment criteria for high‑throughput gene‑expression data. It covers quality and reliability considerations for data generated by microarray, next‑generation sequencing (RNA‑seq) and other high‑throughput technologies, with a focus on short‑read sequencers and human‑health‑associated species (human, cell lines, preclinical animals). The document targets accuracy, reproducibility and comparability of gene‑expression measurements across genes, transcripts, isoforms, exons and junctions. Use of RNA‑seq for mutation detection or virus identification is explicitly out of scope.
Key topics and technical requirements
ISO/TS 22690:2021 organizes requirements around practical quality checkpoints and metadata capture:
- From sample to RNA
- RNA integrity, concentration and purity requirements and reporting
- Sample certificate of origin and traceability
- Sequencing read quality metrics
- Total number of reads, read length, base‑call quality, GC content
- Overrepresented sequences and adapter residue detection
- Alignment and mapping metrics
- Alignment ratio, gene‑body coverage uniformity, strand specificity
- Insert size, mismatch rates and contamination checks
- Expression and downstream QC
- Expression distribution, number of expressed genes, sequencing saturation
- Reproducibility and assessment of differentially expressed genes (DEGs)
- Biological interpretation and functional annotation guidance
- Batch effects and process controls
- Identification and QC of batch effects; recommendations for process management
- Spike‑in controls and proficiency testing
- Use of external controls and inter‑laboratory proficiency testing to assess laboratory competence
The specification emphasizes capturing quality‑related data and metadata needed for interoperability and reproducible analysis.
Practical applications and users
ISO/TS 22690:2021 is intended for:
- Clinical and research laboratories generating RNA‑seq or microarray gene‑expression data
- Sequencing service providers and biobanks
- Bioinformaticians and data analysts implementing RNA‑seq QC pipelines
- Pharmaceutical and biotech organizations conducting preclinical and translational studies
- Regulatory bodies and organizations validating omics‑based assays
Benefits include improved reproducibility, standardized QC reporting, better comparability across studies, and stronger support for FAIR (findable, accessible, interoperable, reusable) data practices - all critical for drug development, biomarker discovery and precision medicine.
Related guidance and initiatives
- Developed by ISO/TC 215 (Health informatics)
- Complements community efforts such as MAQC/SEQC and MAQC Society recommendations on expression data quality and reproducibility
Keywords: ISO/TS 22690:2021, genomics informatics, RNA‑seq quality, high‑throughput gene‑expression, quality control metrics, reliability assessment, short‑read sequencers, reproducibility, batch effects, proficiency testing.