Overview
ISO/IEC 23092-1:2025 - "Information technology - Genomic information representation - Part 1: Transport and storage of genomic information" specifies standardized data formats and conversion procedures for transporting and storing genomic information. The third edition defines the structure, syntax and semantics needed to represent sequencing data, annotations and related metadata in both file and transport contexts, enabling interoperable exchange, selective access and long-term archival of genomic datasets.
Key topics and technical requirements
- Data model and structures
- Definitions for file header, dataset group, dataset, access unit, block, annotation table and related attribute groups.
- Rules for organizing genomic sequencing data records and genomic annotation data records.
- File format vs. transport format
- Distinct data structures and box order for on-disk storage and packetized transport.
- Dataset mapping tables, packets and descriptor streams for streaming and network transfer.
- Conversion and reference procedures
- Specified procedures to convert transport format to file format (depacketization and mapping).
- Selective access and indexing
- Mechanisms for selective retrieval (random access) of genomic regions or annotation tiles.
- String indexing technologies (Master String Index, suffix array lookups, LF-mapping) for efficient substring searches and retrieval of sequence strings.
- Numeric range searches via B‑Tree indexing for coordinate/range queries across annotations and numeric attributes.
- Syntax, operators and semantics
- Formal specification of operators, string/array functions, bit ordering and syntax tables to ensure consistent implementations.
- Annexes
- Informative guidance including RFC 3986 summary, selective access strategies, depacketization, and handling symmetric annotation data.
Practical applications
- Standardized exchange of genomic data between sequencing centers, bioinformatics pipelines and repositories.
- Efficient streaming of large genomic datasets for cloud-based analysis or real-time clinical workflows.
- Long-term archival of genomic datasets with well-defined file structures for preservation and reproducibility.
- Fast substring and coordinate-based queries in variant calling, genome browsers and annotation services.
- Interoperability layer for EHR/genomic integrations, reference data distribution, and device/software vendors.
Who should use this standard
- Bioinformatics engineers and data architects designing genomic storage/transport systems.
- Software developers building genome browsers, search engines and pipeline tools.
- Cloud and archive service providers handling large-scale genomic datasets.
- Clinical labs, sequencing centers and data repositories requiring interoperable formats for data exchange and compliance teams evaluating data format standards.
Related references
- Annex A summarizes IETF RFC 3986 (URI syntax) as referenced in the standard.
- This part is one element of the ISO/IEC 23092 genomic information representation work; consult ISO catalog for related parts and updates.