ISO/IEC JTC 1/SC 29/WG 8 - MPEG Genomic coding

This document provides specifications for the representation of the following types of genomic information: — unaligned sequencing reads including read identifiers and quality values; — aligned sequencing reads including read identifiers and quality values; — reference sequences.

This document provides specifications for the normative representation of the following types of genomic information: — variants with genotyping information — functional annotations — tracks — expression matrices — contact matrices (from Hi-C experiments or similar).

This document specifies information 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); — protection elements providing confidentiality, integrity and privacy rules at the different encapsulation levels specified in ISO/IEC 23092-1 (in Clause 7); — how to associate auxiliary fields to encoded reads (in Clause 8); — mechanisms for backward compatibility with existing SAM content, and exportation to this format (in Annex C); — interfaces to access genomic information coded in compliance with ISO/IEC 23092-1 and ISO/IEC 23092-2 (in subclause 8.1).