Poster: EXCELSA integrates variant- and phenotype-level evidence for smarter variant prioritization

Finding the disease-relevant variant in a sea of candidates is one of the hardest problems in genomic medicine, yet variant-centric or phenotype-centric tools alone can only take you so far.

EXCELSA is a variant prioritization algorithm within the SOPHiA DDM™ Platform 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, EXCELSA 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 EXCELSA, 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.

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

At the date of publishing, EXCELSA is not yet commercially available in any region and is intended for Research Use Only (RUO).

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