Bioinformatics has played a major role in gene sequencing diagnostics and has been an essential tool to investigate the genetic causes of disease. With the support of new technologies and tools, bioinformatics can play an important part in the support and continued development of precision medicine.
With the completion of the ‘draft’ sequence of the human genome predicting an estimate of 40,000-120,000 genes that describe us, the real work begins. The problem now is not lack of data but lack of tools to thoroughly analyse what we already have and what’s coming in the future will only make that chasm wider.
For many years we have used the term bioinformatics to describe, well, anything outside cheminformatics in the R&D informatics domain. It has been a ‘catch-all’ term to label informatics tools that handle biologically relevant information. But the tools and software that have been labelled as such have not been expansive – albeit they are biology centric.
Recently the value of bioinformatics has been questioned. The value can be proven but are there enough qualified and professionally trained people who know how to build good bioinformatics tools?
With the vast amount of biochemical data generated from experiments conducted by research laboratories around the globe, there is strong demand for software to analyse and manage the data effectively.