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Additional info for Big data in medical science and healthcare management : diagnosis, therapy, side effects
Extensive technology platforms will be developed for BIG/BIH research in the next few years. Not only are the genotypes differentiated through SNPs, but also further epigenome, transcriptome, proteome and metabolome data will first be related to clinically collected patient data in research and then in treatment. The genome of each and every human being consists of three billion base pairs. If these were fully sequenced for all the patients of just one university hospital – such as the Charité – the data volume would quickly amount to terabytes or even petabytes.
The genetic material is full of activity. ZEIT: So we have to bury the idea that our genome consists mostly of garbage? Birney: That’s correct. Junk DNA was never a particularly appropriate metaphor, if you ask me. I find “the dark matter of the genome” much better. ZEIT: And how much dark matter will still remain in the genetic makeup after Encode? Birney: It is difficult to say: We understand some parts, but don’t understand others. There are too many functional levels in a genome. But let me put it this way: We have now assigned 80 per cent of all hereditary factors to a certain biological activity.
Birney: Yes. We always knew that the differences between the cells of different organs and tissues are determined by the position of the genetic switches. But what we did not know: The genome is full of them. We have discovered four million genetic switches with which genes are controlled. They are called transcription factor binding sites – contact points between the DNA and control proteins. ZEIT: Conclusion: Up to now, we were aware of more than 20,000 genes for proteins. Now you have added millions of switches that control a cell’s biology in a variety of combinations.