Poster: SOPHiA DDM™ VPR integrates variant- and phenotype-level evidence for smarter variant prioritization

SOPHiA DDM™ Variant Prioritization & Ranking (VPR) is a variant prioritization algorithm that brings together two complementary views: variant-level evidence through SOPHiA DDM™ AROMA, and phenotype-level evidence through SOPHiA DDM™ ESPRESSO. By combining both into a single, optimized ranking, VPR is designed to surface the right candidates faster, even in cases where variants are classified as uncertain and symptoms are non-specific.

This poster, presented at ESHG 2026, walks through the architecture behind VPR, how AROMA and ESPRESSO each contribute to the combined score, and how the algorithm performs across a large dataset of real solved rare disease cases, with a particular focus on complex disorders where single-view methods tend to fall short.

Watch Giulia's summary for an overview of the innovative SOPHiA DDM™ Variant Prioritization & Ranking algorithm.

*All mentions of EXCELSA refer to SOPHiA DDM™ for Variant Prioritization & Ranking.*

Read the poster to explore the data and see VPR in action.

SOPHiA DDM™ Variant Prioritization & Ranking (VPR) is for Research Use Only (RUO); RUO results must not be used for clinical diagnosis or patient management.

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