Project Name: Genome sequencing interpretation system dedicated to precision medicine.

Project Duration: 01.2016 – 12.2019

Project Budget: 2 662 654.37 PLN including co-financed 2 018 065.14 PLN

The aim is to develop an automatic genome interpretation software with the capability to generate clinical reports for multiple diagnostic traits. The developed engine will search through all the available human genome databases automatically and the gathered information will then serve as a base for producing clinical report generators – GeneTraps. The generated reports will be focused on a clinical trait and can be further merged into groups of disease-related panels. These can be efficiently used by specialists in a particular medical field to obtain the required information with no need for a profound understanding of the whole-genome analysis. The emphasis of our work is placed on supporting the expert’s decision-making skills by providing high-quality genome interpretation reports from next-generation sequencing data. Hence, introducing GeneTraps to clinics will have a great impact on the diagnosis process not only by reducing the time needed but also by providing current and reliable information (POIR.01.01.01-00-0213/15).

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