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List of selected publications

CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.
Nicora G, Limongelli I, Gambelli P, Memmi M, Malovini A, Mazzanti A, Napolitano C, Priori S, Bellazzi R.
Human Mutation 2018

Abstract: An automatic implementation of ACMG/AMP variant interpretation guidelines.
G. Nicora, I. Limongelli, P. Gambelli, M. Memmi, C. Napolitano, A. Malovini, A. Mazzanti, S. Priori, R. Bellazzi.
ESHG 2018 Proceedings, 2018

Variant interpretation supporting genetic diagnosis in exome sequencing NGS data: eVAI clinical validation.
S. Zucca, I. Limongelli, M. Valente, A. Asaro, J. Garau, I. Palmieri, R. Bellazzi, C. Cereda. 
ESHG 2018 Proceedings, 2018

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