Benchmarking generative AI tools for literature retrieval and summarization in genomic variant interpretation
Andrea Gazzo, Silvia Berardelli, Matteo Biancospino, Lorenzo Cuollo et autres
0 citationsGenome biology
Silvia Berardelli
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13Publications signalées
49Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesBiomedical Text Mining and OntologiesLysosomal Storage Disorders ResearchBiochemical and Molecular ResearchGenomics and Phylogenetic Studies
Publications récentes
PhenoXtract: combining Large Language Model and Knowledge Graph embedding to extract phenotypes from clinical descriptions
Silvia Berardelli, Galadriel Brière, Benjamin Loire, Federica De Paoli et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Exploring the Impact of DNA Methylation on Gene Expression in CRC: A Computational Approach for Identifying Epigenetically Regulated Genes in Multi-Omic Datasets
Andrei Stefan Blindu, Silvia Berardelli, Federica De Paoli, Federico Manai et autres
1 citationCancers
P229: The eVai suggested diagnosis and VarChat: The enGenome AI ecosystem for variant interpretation
Susanna Zucca, Federica De Paoli, Silvia Berardelli, Ettore Rizzo
0 citationsGenetics in Medicine Open
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Fabrizio Pucci, Ailin Glagovsky, Dinesh Joshi, Vikas Pejaver et autres
0 citationsCarolina Digital Repository (University of North Carolina at Chapel Hill)
Digenic variant interpretation with hypothesis-driven explainable AI
Federica De Paoli, Giovanna Nicora, Silvia Berardelli, Andrea Gazzo et autres
2 citationsNAR Genomics and Bioinformatics
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena Trinidad, Thanh Nguyen, Kaiya Jones et autres
1 citationHuman Genetics
AI Models Predicting Methylation Status from DNA Sequence: What is Missing?
Andrei Stefan Blindu, Silvia Berardelli, Federica De Paoli, Rossella Tricarico et autres
0 citationsLecture notes in computer science
Generative AI Meets Genomics: VarChat, a RAG-Based Approach for Literature-Driven Variant Summarization
Federica De Paoli, Silvia Berardelli, Alessia Tudisco, Andrei Stefan Blindu et autres
3 citationsLecture notes in computer science
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Shantanu Jain, Marena Trinidad, Thanh Nguyen, Kaiya Jones et autres
3 citationsbioRxiv (Cold Spring Harbor Laboratory)
VarChat: the generative AI assistant for the interpretation of human genomic variations
Federica De Paoli, Silvia Berardelli, Ivan Limongelli, Ettore Rizzo et autres
34 citationsBioinformatics
VarChat: The Generative AI Assistant for the Interpretation of Human Genomic Variations
Federica De Paoli, Silvia Berardelli, Ettore Rizzo, Ivan Limongelli et autres
1 citationPreprints.org
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