Genomic Information Representation

The development of Next Generation Sequencing (NGS) technologies enable the usage of genomic information as everyday practice in several fields, but the growing volume of data generated becomes a serious obstacle for a wide diffusion. The lack of an appropriate representation and efficient compression of genomic data is widely recognized as a critical element limiting its application potential. Beside compression which is at the base of any efficient processing of genomic information, there are several other requirements that the current data formats for raw and aligned data do not fulfil. ISO/TC 276 and MPEG have combined their respective expertise and missions and have addressed the emerging problem of managing the large quantities of genomic sequencing data by developing the ISO/IEC 23092 standard series also known as MPEG-G. The series provides the specification of a file and transport format (Part 1), compression technology (Part 2), metadata specifications, protection support, and standard APIs for the access of sequencing data in the native compressed format (Part 3).

In line with the traditional MPEG practice of continuous improvement of the quality and performance of its standards, MPEG also completed a new edition of Part 1 and 2 and new specifications Part 4 “Reference Software” and Part 5 “Conformance”. Such components of the MPEG-G standard series provide important supports to those willing to implement the standard or interested to verify the correctness and interoperability of their own implementations.

Compared to the first edition, the second editions of ISO/IEC 23092-1 and ISO/IEC 23092-2, haves been improved by taking into accounts comments received from users.

The ISO/IEC 23092-4 (MPEG-G Reference Software) standard provides a normative implementation of the standard. In conjunction with the ISO/IEC 23092-5 (MPEG-G Conformance) standard, it provides a comprehensive specification and validation support for the development of conforming decoder implementations. Interoperability of applications relying on normative decoding processes is facilitated by a reference normative decoding process and a rich set of tests and corresponding golden references.

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