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Benchmarking generative AI tools for literature retrieval and summarization in genomic variant interpretation

Gazzo, A., Berardelli, S.+14

Genome Biology

Artificial Intelligence and Machine Learning Approaches for Cardiovascular Genomics: A State-of-the-Art Review

De Paoli, F., Nicora, G.+26

Circulation: Genomic and Precision Medicine

Digenic variant interpretation with hypothesis-driven explainable AI

De Paoli, F., Nicora, G.+14

NAR Genomics and Bioinformatics

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

De Paoli, F., Berardelli, S.+6

Bioinformatics

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

Zucca, S., Nicora, G.+12

Human Genetics

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+6

Genes

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

Scientific Reports