DESKTOP GENETICS – THE SUCCESSFUL MARRIAGE OF AI AND GENOME EDITING
By Kira Schuetzenhofer, Editor
Desktop Genetics was founded in 2012 by a chemical engineer, a molecular biologist and a biochemist with the vision to combine bioinformatics and genetics to support researchers on their quest to cure human genetic diseases. With the advent of CRISPR-Cas9 in 2013, Desktop Genetics redirected its focus entirely onto the development of an artificial intelligence (AI) system. The system is tailored to design custom CRISPR libraries, an effort honoured by the founders’ placement on the Forbes 30 under 30 of Europe’s Technology sector. For those who have miraculously evaded all the rage about CRISPR-Cas9, it is the most precise genome editing technology currently available. It is based on a viral defence mechanism found in certain bacteria, and uses an endonuclease (Cas9) guided by a single-RNA to precisely target and cut complementary genomic sequences. This can then be used to introduce either mutations, knock-ins, knock-outs, or replace a faulty piece of DNA with a correct one.
This has enormous implications for the correction of human genetic mutations and defects, and owing to first successes in animal studies, the CRISPR-Cas9 system shows great promise as a tool in personalised medicine.
However, there are several challenges that hinder its effectiveness, including often poor specificity of guide-RNAs, and how to deliver the CRISPR machinery into cells and tissues of interest . It is exactly these obstacles that Desktop Genetics aims to tackle. The DeskGen AI that the team developed and honed for four years combines data from previous large-scale CRISPR experiments, published work, as well as personal genomics data from sequencing, to design the best possible CRISPR guide RNA libraries for customers.
To date, the DeskGen software has collected more than four million data points from CRISPR experiments, and this number continues to grow, further improving the system’s accuracy. The software enables the prediction of guide performance for different target sequences and allows the adjustment of the total number of guides necessary, thereby maximising results and lowering costs. It is an accessible customisable tool for scientific research, which enables customers to design their own CRISPR experiments, select different libraries and use a variety of delivery systems.
Desktop Genetics is currently fulfilling a growing demand in the scientific research sector, and is on its way to becoming the leading CRISPR bioinformatics resource. By combining the power of machine learning with genome editing, the founders of DeskGen have made a remarkable impact on applied genomics, and the company will no doubt play a significant role in shaping the future of personalised medicine.
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 Hough et al., 2016: Desktop Genetics. Personalized Medicine, 13(6), 517-521