• 22 Citations
  • 2 h-Index
20172019
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Research Output 2017 2019

  • 22 Citations
  • 2 h-Index
  • 4 Article
  • 1 Conference contribution
2019

A rule-based expert system for automatic implementation of somatic variant clinical interpretation guidelines

Nicora, G., Limongelli, I., Cova, R., Della Porta, M. G., Malcovati, L., Cazzola, M. & Bellazzi, R., Jan 1 2019, Artificial Intelligence in Medicine - 17th Conference on Artificial Intelligence in Medicine, AIME 2019, Proceedings. Wilk, S., ten Teije, A. & Riaño, D. (eds.). Springer Verlag, p. 114-119 6 p. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); vol. 11526 LNAI).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Rule-based Systems
Expert System
Expert systems
Oncology
Biomarkers
2018
Adenosine Monophosphate
Cardiovascular Diseases
Guidelines
Virulence
Inborn Genetic Diseases

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G. N., Novara, F., Bonaglia, M. C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S. & Zuffardi, O., 2018, In : Clinical Genetics. 93, 3, p. 545-556 12 p.

Research output: Contribution to journalArticle

2017
4 Citations (Scopus)

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G. N., Novara, F., Bonaglia, M. C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S. & Zuffardi, O., 2017, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Exome
Workflow
Safe Sex
Gene Expression Regulation
Computational Biology
18 Citations (Scopus)

MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome

Vetro, A., Savasta, S., Russo Raucci, A., Cerqua, C., Sartori, G., Limongelli, I., Forlino, A., Maruelli, S., Perucca, P., Vergani, D., Mazzini, G., Mattevi, A., Stivala, L. A., Salviati, L. & Zuffardi, O., May 1 2017, In : European Journal of Human Genetics. 25, 5, p. 646-650 5 p.

Research output: Contribution to journalArticle

DNA Replication
Mutation
Genes
Cell Cycle
Exome