S/P/E Fusion: Unified Variant Interpretation
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.
Why It Matters
- Get a single, unified view of variant impact across multiple biological dimensions.
- Transform ambiguous data points into a clear, confident, and coherent evidence story.
- Move beyond single-metric scores to a holistic, biologically-grounded conclusion.
What We Delivered
- Integrated analysis of Structure, Phenotype, and Expression data.
- Clear, auditable evidence trail for every prediction.
- Actionable insights for therapeutic consideration (RUO).
A Multi-Dimensional Approach
S/P/E Fusion serves both scientific discovery and clinical research
For Scientists
- **Holistic View:** See how structural changes, phenotypic outcomes, and expression levels connect.
- **Confidence, Not Confusion:** Get a single, clear hypothesis with supporting evidence from all three data modalities.
- **Biologically Grounded:** Understand the *why* behind a variant's impact, not just the score.
For Clinicians (RUO)
- **Actionable Insights:** Translate complex data into a clear starting point for therapeutic consideration.
- **Auditable Evidence:** Every conclusion is backed by a clear trail of evidence from each data source.
- **Reduce Uncertainty:** Move VUS-level ambiguity toward a clear, defensible position.
The Three Pillars of S/P/E Fusion
Integrating Structure, Phenotype, and Expression
Structural Analysis (S)
LIVETechnical
Leverages AlphaFold 3 for protein structure prediction and analyzes variant impact on 3D conformation, stability, and binding sites.
Scientific
Connects genetic variation to concrete changes in protein machinery, explaining functional impact.
Business
De-risk targets early by identifying variants that fundamentally break protein function.
Use Cases
1. **Predict** protein folding changes.
2. **Analyze** impacts on ligand binding.
3. **Identify** disruptions to protein-protein interactions.
Phenotypic Correlation (P)
LIVETechnical
Integrates data from ClinVar, preclinical studies, and real-world evidence to correlate variants with observed phenotypic outcomes.
Scientific
Grounds in-silico predictions in real-world biological and clinical consequences.
Business
Increase confidence in therapeutic hypotheses by linking them to validated outcomes.
Use Cases
1. **Correlate** variants with clinical outcomes.
2. **Integrate** with cohort data for population-level insights.
3. **Tier** evidence based on study strength.
Expression & Splicing (E)
LIVETechnical
Utilizes Enformer and SpliceAI to predict how non-coding and splice-site variants affect gene expression and RNA processing.
Scientific
Reveals the functional impact of variants outside of coding regions, a traditional blind spot.
Business
Unlock new therapeutic targets by understanding the full regulatory landscape.
Use Cases
1. **Predict** impact on gene expression levels.
2. **Identify** cryptic splice sites.
3. **Analyze** effects on regulatory element binding.