[Relevance of big data for molecular diagnostics]

Z Rheumatol. 2018 Apr;77(3):195-202. doi: 10.1007/s00393-018-0436-3.
[Article in German]


Big data analysis raises the expectation that computerized algorithms may extract new knowledge from otherwise unmanageable vast data sets. What are the algorithms behind the big data discussion? In principle, high throughput technologies in molecular research already introduced big data and the development and application of analysis tools into the field of rheumatology some 15 years ago. This includes especially omics technologies, such as genomics, transcriptomics and cytomics. Some basic methods of data analysis are provided along with the technology, however, functional analysis and interpretation requires adaptation of existing or development of new software tools. For these steps, structuring and evaluating according to the biological context is extremely important and not only a mathematical problem. This aspect has to be considered much more for molecular big data than for those analyzed in health economy or epidemiology. Molecular data are structured in a first order determined by the applied technology and present quantitative characteristics that follow the principles of their biological nature. These biological dependencies have to be integrated into software solutions, which may require networks of molecular big data of the same or even different technologies in order to achieve cross-technology confirmation. More and more extensive recording of molecular processes also in individual patients are generating personal big data and require new strategies for management in order to develop data-driven individualized interpretation concepts. With this perspective in mind, translation of information derived from molecular big data will also require new specifications for education and professional competence.

Keywords: Bioinformatics; Data analysis; Data networks; Molecular medicine; Omics technologies.

Publication types

  • Review

MeSH terms

  • Algorithms
  • Big Data*
  • Datasets as Topic / trends
  • Forecasting
  • Germany
  • Humans
  • Medical Records Systems, Computerized / trends
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / trends
  • Patient Generated Health Data / trends
  • Rheumatology / methods*
  • Rheumatology / trends
  • Software / trends