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 including:
- 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
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.
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.
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.
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.
Part 5: Conformance
Conformance testing is fundamental in providing means to validate the correct implementation of the MPEG-G technology in different devices and applications and the interoperability among all systems. This part of the standard specifies a normative procedure to assess conformity to the standard on an exhaustive dataset of compressed data.
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 127th MPEG meeting in Gothenburg, Sweden, on 7 July 2019 at Clarion Post Hotel. 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