20172019

Research output per year

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Research Output

  • 4 Article
  • 1 Conference contribution

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

  • 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

    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

  • 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