Hipathia-genomics

Hipathia-genomics models the mechanistic impact of complex genomic variations on human signaling networks to support clinical interpretation of multigenic disease mechanisms.

Key Features:

• Mechanistic Modeling: Employs mechanistic models to simulate how genetic alterations impact biological systems across networks rather than focusing solely on individual genes.
• Systems Biology Approach: Integrates systems biology principles to assess the effects of loss-of-function mutations in proteins that are components of interaction networks such as signaling pathways.
• Functional Consequence Estimation: Estimates the functional consequences of mutations and gene expression changes on human signaling systems and their associated downstream outcomes.
• Pathological Role Inference: Infers the pathological roles of damaged genes by situating them within broader signaling networks to relate genetic variation to disease phenotypes.

Scientific Applications:

• Complex disease modeling: Models multigenic etiologies by simulating interactions within biological modules to explore system-level dysfunctions.
• Therapeutic target identification: Elucidates key nodes and pathways affected by genetic alterations to assist in identifying potential therapeutic targets.
• Genomic data interpretation for personalized medicine: Enhances interpretation of genomic data to inform personalized medicine approaches where traditional gene-centric analyses are insufficient.

Methodology:

Uses mechanistic models and systems-biology modeling of interactions within signaling pathways and biological modules to estimate the effects of loss-of-function mutations and gene expression changes on human signaling networks.