Information technology — Genomic information representation — Part 3: Metadata and application programming interfaces (APIs)

This document specifies information metadata, metrics metadata, clinical data linkage metadata, auxiliary fields, SAM interoperability, protection metadata and programming interfaces of genomic information. It defines:

—     metadata storage and interpretation for the different encapsulation levels as specified in ISO/IEC 23092-1 (in Clause 6);

—     metrics metadata containing sequencing data metrics at the dataset and access unit levels as specified in ISO/IEC 23092-1 (in Clause 7);

—     clinical data linkage metadata stored at the dataset group, dataset and annotation table levels as specified in ISO/IEC 23092-1 (in Clause 8);

—     protection elements providing confidentiality, integrity and privacy rules at the different encapsulation levels as specified in ISO/IEC 23092-1 (in Clause 9);

—     how to associate auxiliary fields to encoded reads (in Clause 10);

—     interfaces to access genomic information coded in compliance with ISO/IEC 23092-1 and ISO/IEC 23092-2 (in Clause 12);

—     mechanisms for backward compatibility with existing SAM content, and exportation to this format (in Annex E).