Submitted Abstract
GenoMask Pathfinder aims at evaluating the market potential of early stage read filtering and masking of genomic information. Biomedical applications, such as personalized medicine, process large amounts of genomic information, such as DNA, RNA and proteins.The challenge addressed by our solution is efficient protection of privacy-sensitive parts in our DNA immediately after it is digitized by next-generation sequencing (NGS) machines. Our approach is to identify sensitive sequences in the reads (short strings) produced by the NGS machines. Identified sensitive parts are masked out in the insensitive information to allow for more distinguished processing and protection. For example, the subsequent alignment (locating reads in the genome) is performed entirely on insensitive information, reverting to masked out information only to refine difficult to locate reads (protecting the refined alignment result in a similar manner). The commercialization potential of our approach lies in form of a software-layer, embedded into existing sequencing machines, or in the form of a dedicated computer system connected to such machines. Potential customers include medical research facilities, hospitals, ethnical research companies and the pharmaceutic industry. Increased protection of sensitive genomic information increases the confidence in the offered services and helps fulfil regulations such as the GDPR.