Valentini, Giorgio

The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

Zhou, N., Jiang, Y., Bergquist, T. R., Lee, A. J., Kacsoh, B. Z., Crocker, A. W., Lewis, K. A., Georghiou, G., Nguyen, H. N., Hamid, M. N., et al. (2019) · Genome Biology

Bioinformatics and Genomic NetworksGenomics and Phylogenetic Studies

Cited by 452

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 283

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

Schubach, M., Re, M., Robinson, P. N., & Valentini, G. (2017) · Scientific Reports

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 97

An ontology-based knowledge graph for representing interactions involving RNA molecules

Cavalleri, E., Cabri, A., Soto-Gomez, M., Bonfitto, S., Perlasca, P., Gliozzo, J., Callahan, T. J., Reese, J., Robinson, P. N., Casiraghi, E., et al. (2024) · Scientific Data

Biomedical Text Mining and OntologiesBioinformatics and Genomic Networks

Cited by 33

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

Reese, J. T., Chimirri, L., Bridges, Y., Danis, D., Caufield, J. H., Gargano, M. A., Kroll, C., Schmeder, A., Liu, F., Wissink, K., et al. (2024) · medRxiv

Artificial Intelligence in Healthcare and EducationGenomics and Rare Diseases

Cited by 8

Data Integration Issues and Opportunities in Biological XML Data Management

Mesiti, M., Ruiz, E. J., Sanz, I., Llavori, R. B., Valentini, G., Perlasca, P., & Manset, D. (2010) · Open and Novel Issues in XML Database Applications

Semantic Web and OntologiesBiomedical Text Mining and Ontologies

Cited by 4