Bioinformatics describes an interdisciplinary field of science that develops and implements methods for the computer-assisted analysis, organization and storage of biological data. An important application area for modern bioinformatics is the development of specific software for the analysis and extraction of biologically or clinically relevant information from high-throughput DNA sequencing.
Diagnostic data collected in daily routines is transferred to database systems. Doing so permits rapid comparison of findings from a host of analysis methods and therefore a prompt diagnosis for each patient. Indeed, computer-assisted analysis pipelines are indispensable due to the increasing use of next-generation sequencing (NGS) in routine diagnostic procedures and the immense volumes of data produced by this method. Several hundred million base pairs of sequence information are produced for each patient due to the high cover of genetic segments. Special algorithms scan the sequence data collected in this way to identify mutations compared with a human reference genome. Benchmarking against clinical databases and in-house data repositories is then conducted to enable an estimation of whether the sequence variants identified represent clinically relevant mutations or benign polymorphisms.