The development and progress of high-throughput sequencing technologies have transformed the sequencing of DNA from a scientific research challenge to practice. With the release of the latest generation of sequencing machines, the cost of sequencing a whole human genome has dropped to less than $\$ 600. Such achievements open the door to personalized medicine, where it is expected that genomic information of patients will be analyzed as a standard practice. However, the associated costs, related to storing, transmitting, and processing the large volumes of data, are already comparable to the costs of sequencing. To support the design of new and interoperable solutions for the representation, compression, and management of genomic sequencing data, the Moving Picture Experts Group (MPEG) jointly with working group 5 of ISO/TC276 “Biotechnology” has started to produce the ISO/IEC 23092 series, known as MPEG-G. MPEG-G does not only offer higher levels of compression compared with the state of the art but it also provides new functionalities, such as built-in support for random access in the compressed domain, support for data protection mechanisms, flexible storage, and streaming capabilities. MPEG-G only specifies the decoding syntax of compressed bitstreams, as well as a file format and a transport format. This allows for the development of new encoding solutions with higher degrees of optimization while maintaining compatibility with any existing MPEG-G decoder.

中文翻译：

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MPEG-G 简介：第一个用于基因组测序数据压缩和交换的开放 ISO/IEC 标准


高通量测序技术的发展和进步，使DNA测序从科学研究挑战转变为实践。随着最新一代测序机的发布，人类全基因组测序的成本已降至不足600美元。这些成就打开了个性化医疗的大门，预计将分析患者的基因组信息作为标准做法。然而，与存储、传输和处理大量数据相关的成本已经与测序成本相当。为了支持基因组测序数据的表示、压缩和管理的新型可互操作解决方案的设计，运动图像专家组 (MPEG) 与 ISO/TC276“生物技术”第 5 工作组联合开始制定 ISO/IEC 23092系列，称为MPEG-G。与现有技术相比，MPEG-G 不仅提供更高级别的压缩，而且还提供新功能，例如对压缩域中随机访问的内置支持、对数据保护机制的支持、灵活的存储和流式传输能力。 MPEG-G仅规定了压缩比特流的解码语法，以及文件格式和传输格式。这允许开发具有更高优化程度的新编码解决方案，同时保持与任何现有 MPEG-G 解码器的兼容性。