Integrate Structure, Phenotype, and Expression data for a comprehensive, multi-dimensional view of variant impact. Go beyond single-metric scores to a unified, biologically-grounded conclusion.
S/P/E Fusion serves both scientific discovery and clinical research
Integrating Structure, Phenotype, and Expression
Leverages AlphaFold 3 for protein structure prediction and analyzes variant impact on 3D conformation, stability, and binding sites.
Connects genetic variation to concrete changes in protein machinery, explaining functional impact.
De-risk targets early by identifying variants that fundamentally break protein function.
1. **Predict** protein folding changes.
2. **Analyze** impacts on ligand binding.
3. **Identify** disruptions to protein-protein interactions.
Integrates data from ClinVar, preclinical studies, and real-world evidence to correlate variants with observed phenotypic outcomes.
Grounds in-silico predictions in real-world biological and clinical consequences.
Increase confidence in therapeutic hypotheses by linking them to validated outcomes.
1. **Correlate** variants with clinical outcomes.
2. **Integrate** with cohort data for population-level insights.
3. **Tier** evidence based on study strength.
Utilizes Enformer and SpliceAI to predict how non-coding and splice-site variants affect gene expression and RNA processing.
Reveals the functional impact of variants outside of coding regions, a traditional blind spot.
Unlock new therapeutic targets by understanding the full regulatory landscape.
1. **Predict** impact on gene expression levels.
2. **Identify** cryptic splice sites.
3. **Analyze** effects on regulatory element binding.