Overview
ISO/IEC 23092-3:2022 - "Information technology - Genomic information representation - Part 3: Metadata and application programming interfaces (APIs)" defines metadata models, protection metadata and programming interfaces for packaged genomic data. Part 3 complements ISO/IEC 23092-1 and -2 by specifying how to store and interpret metadata at multiple encapsulation levels, associate auxiliary fields with reads, ensure SAM interoperability, and provide APIs to access genomic information. It also includes XML schemas and guidance on export to legacy formats.
Key topics and technical requirements
- Metadata storage and interpretation: Definitions for dataset group, reference and dataset metadata (Clause 6), along with extension mechanisms and metadata profiles (e.g., run profiles).
- Protection metadata: Elements for confidentiality, integrity, digital signatures and privacy rules at dataset-group, dataset and access-unit levels (Clause 7). Specifies encryption parameters, key retrieval and decryption workflows.
- Access unit information: Structures for auxiliary fields and tags (genAuxRecord, genAux, genTag) tied to encoded reads to preserve per-read annotations and auxiliary data (Clause 8).
- SAM interoperability and export: Mechanisms for backward compatibility and exporting encoded reads to SAM/BAM-like content (Annex C).
- APIs and data model: A detailed programming interface specification covering data types, return codes, metadata fields, filters, genomic information access, protection handling and statistics (Clause 10). Annexes supply XML schemas for metadata and protection elements (Annex A/B).
- Decoding and processing: Initialization, decoding macros and procedures for metadata interpretation to ensure consistent implementations (Clause 9).
- Informative examples: Key transport and interoperability examples to support secure exchange and migration (Annex D, Annex C).
Applications and who should use it
ISO/IEC 23092-3 is designed for practitioners working with high-throughput sequencing (HTS) data and packaged genomic representations:
- Bioinformatics software developers implementing storage formats, readers/writers and APIs that comply with the ISO/IEC 23092 series.
- Genomics platform vendors building secure and interoperable repositories or pipelines needing metadata, encryption and signature support.
- Clinical laboratories and EHR integrators requiring standardized metadata profiles, privacy rules and digital integrity for genomic data exchange.
- Data stewards and standards teams seeking XML schemas and migration paths to/from SAM/BAM/CRAM.
Related standards
- ISO/IEC 23092-1 - core file format and encapsulation levels
- ISO/IEC 23092-2 - compression and coding for genomic data
- SAM/BAM/CRAM formats (interoperability and export guidance provided in Annex C)
By standardizing metadata, protection metadata and APIs, ISO/IEC 23092-3:2022 enables secure, interoperable and programmatic access to large-scale genomic information - essential for scalable HTS workflows, clinical genomics and data sharing.