Applications in biomedicine and in the interpretation of genetic variants

Partners involved: Molecular health*, Gagneur, Schwarz, Stegle 

One of the key challenges in genetic diagnostics is the interpretation of rare inherited or somatic genetic variants. We will use the MechML predictions from WP5.2 and WP5.3 for variant prioritization to enable personalized predictions in patients. For cancer research, this means characterizing the cellular state and specific transcriptional and splicing-related anomalies, which can then be treated with specific antibody therapies.