MPEG-G ISO/IEC 23092

Genomic Information Representation

The MPEG-G standard is currently the largest coordinated and international effort addressing the problems and limitations of current technologies and products towards a truly efficient and economical handling of genomic information.

The extensive usage of high-throughput deoxyribonucleic acid (DNA) sequencing technologies opens up new perspectives in the treatment of several diseases and enables “precision medicine”. As DNA sequencing technologies produce extremely large amounts of raw data, the ICT costs for the storage, transmission, and processing of DNA sequence data and related information, result to be very high due to the lack of universal standards preventing timely application of effective treatments.

The MPEG-G standard jointly developed by MPEG and ISO Technical Committee for biotechnology standards (ISO TC 276/WG 5) is the first international standard to address and solve the problem of efficient and cost-effective handling of genomic data by providing, not only new compression and transport technologies, but also a family of standard specifications associating relevant information in the form of metadata and a rich set of Application Programming Interfaces (APIs) for building a full ecosystem of interoperable applications and services capable of efficiently processing sequencing data.

MPEG-G utilizes the latest technology to compress and transport sequencing data for complex use cases that are currently not supported by existing formats.

Notable use cases addressed by MPEG-G include:

  • Selective access to compressed data
  • Data streaming
  • Compressed file concatenation
  • Genomic studies aggregation
  • Enforcement of privacy rules
  • Selective encryption of sequencing data and metadata
  • Annotation and linkage of genomic segments
  • Interoperability with main existing technologies and legacy formats
  • Incremental update of sequencing data and metadata

source: mpeg.chiariglione.org

The MPEG-G standard is composed by five parts:

Part 1: Transport and Storage of Genomic Information

This Part of the Standard deals with data formats for both Transport and Storage of Genomic Information, with reference conversion process and informative annexes. The main topics covered by this part are genomic data streaming and file format.

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Part 2: Coding of Genomic Information

This part provides specifications for the normative representation of genomic sequence reads identifiers, genomic sequence reads (both unaligned reads and aligned reads), reference sequences and quality values. This is the part where compression is specified in terms of normative bitstream syntax and decoding behaviour.

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Part 3: Metadata and APIs

This part of the standard specifies information metadata, SAM interoperability, protection metadata and programming interfaces to access genomic information. The main goals are to enable (controlled) access to MPEG-G data from external applications and to add metadata to compressed genomic information.

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Part 4: Reference Software

To support and guide potential implementers of MPEG-G, the standard includes a normative Reference Software. The Reference Software is normative in the sense that any conforming implementation of the decoder, taking the same conformant compressed bitstreams, using the same normative output data structures, will output the same data.

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Part 5: Conformance

This part of the standard is fundamental in providing means to test and validate the correct implementation of the MPEG-G technology in different devices and applications and the interoperability among all systems. Conformance testing specifies a normative procedure to assess conformity to the standard on an exhaustive dataset of compressed data.

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MPEG-G Database

A test set of reference genomic data has been defined to perform tests during the process of standardization, definition of conformance test procedures and other experiments. More information on the MPEG-G database is available on GitHub.

Next MPEG-G AhG meeting

The next MPEG-G AhG meeting will be held before the 124th MPEG meeting in Macao on 6-7 October at The Venetian Macao Taipa, Macao S.A.R., China. More meeting information are available on the meeting web site.

How to participate?

If you are interested in MPEG-G and the related activities you are welcome to join the open mailing list and contribute to the discussions

Joint MPEG-GA4GH Workshop on Genomic Sequencing Data Compression

GA4GH and MPEG are organizing a joint call for submission to collect contributions on emerging and new approaches to genome sequencing data compression. The selected contributions will be presented during a workshop to be held in Basel on 3rd October 2018.

3rd MPEG Workshop on Genomic Information Representation

A workshop on applications of genomic information processing has been held on 18th April 2018 co-located with the 122nd MPEG meeting in San Diego. The Workshop explored the opportunities for improved genome sequencing data processing services enabled by...

2nd MPEG Workshop on Genomic Information Representation

Workshop on Processing of Genomic Information: From Standards to Deployment  13:30 - 19:00, 19th July 2017 – Torino (Italy) Sala dei Mappamondi, Academy of Sciences, Via Accademia delle Scienze, 6, Torino Organized by Italian Institute for...