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Standardization of genomic information representation

corresponding

CLAUDIO ALBERTI
GenomSys, Switzerland

Abstract

The extensive usage of genome sequencing technologies opens new perspectives in the treatment of several diseases and enables the implementation of the new “precision medicine” approach to healthcare. DNA sequencing technologies produce extremely large amounts of raw data which are stored in different repositories worldwide, at an increasing rate as the global market demand constantly keeps growing.

However, this ever-growing volume of sequencing data is already a serious obstacle to the wider diffusion of sequencing in public health. The associated IT costs, related to storing, transmitting and processing the large volumes of data, will soon largely exceed the costs of sequencing. The lack of appropriate representations and efficient compression technologies has been identified as a critical element limiting the potential of genomic data usage for scientific and public health purposes, it therefore became a necessity to develop a new updated technology answering today’s and tomorrow’s needs.

The MPEG-G standard has been developed – jointly by MPEG and the ISO Technical Committee 276 “Biotechnology” – to specifically answer this arising problematic.


MPEG-G - GENOMIC INFORMATION REPRESENTATION STANDARD

MPEG-G is a series of ISO International Standards resulting from the largest internationally coordinated effort addressing the limitations of current legacy formats and technologies. 

The standards aim at providing a framework for the development of an ecosystem of interoperable applications towards a truly efficient and economical handling of genomic information.

 

MPEG-G (ISO/IEC 23092) standards have been developed by the Moving Picture Experts Group - MPEG, a large ISO working group regrouping more than 1’700 delegates from over 40 countries, developing standards widely deployed all over the world for coding, transmission and processing of digital media for over than 30 years.

 

WHAT IS AN INTERNATIONAL STANDARD?

International Standards are technical standards developed by experts belonging to international organizations under the coordination of entities such as ISO, the International Organization for Standardization. ISO is the world’s largest developer of voluntary international standards and f ...




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