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Resources

Read our publications and check eVai citacions

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

- Nicora G, Zucca S, Limongelli I, Bellazzi R & Magni P

An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation

- De Paoli F, Limongelli I, Rizzo E, Nicora G, Magni P.

A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset

- Nicora G, Limongelli I, Zucca S, Santolisier R, Magni P, Bellazzi R.

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.

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.