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Resources

Read our publications and check eVai citations

Digenic variant interpretation with hypothesis-driven explainable AI

- De Paoli, F., Nicora, G., Berardelli, S., Gazzo, A., Bellazzi, R., Magni, P., Rizzo, E., Limongelli, I., & Zucca, S.

Varchat: The generative AI assistant for the interpretation of human genomic variations

- De Paoli, F., Berardelli, S., Limongelli, I., Rizzo, E., & Zucca, S.

An AI‑based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases

- Zucca, S., Nicora, G., De Paoli, F., Carta, M.G., Bellazi, R., Magni, P, Rizzo, E., Limongelli, I.

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

- Taha, I.; De Paoli, F.; Foroni, S.; Zucca, S.; Limongelli, I.; Cipolli, M.; Danesino, C.; Ramenghi, U.; Minelli, A.

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

- Nicora G, Zucca S, Limongelli I, Bellazzi R & Magni P