Enhancing Precision Medicine: A Big Data-Driven Approach for the Management of Genomic Data
Ana León Palacio, Óscar Pastor
Abstract
The management of the exponential growth of data that Next Generation Sequencing techniques produce has become a challenge for researchers that are forced to delve into an ocean of complex data in order to extract new insights to unravel the secrets of human diseases. Initially, this can be faced as a Big Data-related problem, but the genomic data have particular and relevant challenges that make them different from other Big Data working domains. Genomic data are much more heterogeneous; they are spread in hundreds of repositories, represented in multiple formats, and have different levels of quality. In addition, getting meaningful conclusions from genomic data requires considering all of the relevant surrounding knowledge that is under continuous evolution. In this scenario, the precise identification of what makes Genome Data Management so different is essential in order to provide effective Big Data-based solutions. Genomic projects require dealing with the technological problems associated with data management, nomenclature standards, and quality issues that only robust Information Systems that use Big Data techniques can provide. The main contribution of this paper is to present a Big Data-driven approach for managing genomic data, that is adapted to the particularities of the domain and to show its applicability to improve genetic diagnoses, which is the core of the development of accurate Precision Medicine.