Freely-available bioinformatics software

CardioVAI

Web application for on-the-fly ACMG-AMP interpretation of genomic variants associated to Cardiovascular diseases.
See project

PaPI

In-silico predition tool to assess variant protein un-tolerance that combines pseudo amino acid composition, PolyPhen-2 and SIFT.
See project

MUText

Web tool to check HGVS variant nomenclature and translation into corresponding genomic coordinates.
See project

Amplicon-dropout procedure

A procedure to manage sequencing artifacts attributable to PCR-like amplification and allele drop-out in NGS amplicon-based applications.
See project

List of selected publications
from our Team

Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance.
Varettoni M, Zibellini S, Defrancesco I, Ferretti VV, Rizzo E, Malcovati L, Gallì A, Della Porta MG, Boveri E, Arcaini L, Candido C, Paulli M, Cazzola M.
Haematologica 2017

Comparative genomics shows that viral integrations are abundant and express piRNAs in the arboviral vectors Aedes aegypti and Aedes albopictus.
Palatini U, Miesen P, Carballar-Lejarazu R, Ometto L, Rizzo E, Tu Z, van Rij RP, Bonizzoni M.
BMC Genomics 2017

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 GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O.
Clin Genet. 2017

Clinical significance of somatic mutation in unexplained blood cytopenia.
Malcovati L, Gallì A, Travaglino E, Ambaglio I, Rizzo E, Molteni E, Elena C, Ferretti VV, Catricalà S, Bono E, Todisco G, Bianchessi A, Rumi E, Zibellini S, Pietra D, Boveri E, Camaschella C, Toniolo D, Papaemmanuil E, Ogawa S, Cazzola M.
Blood. 2017

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 LA, Salviati L, Zuffardi O.
Eur J Hum Genet. 2017

A Data Fusion Approach to Enhance Association Study in Epilepsy.
Marini S, Limongelli I, Rizzo E, Malovini A, Errichiello E, Vetro A, Da T, Zuffardi O, Bellazzi R.
PLoS One. 2016

Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management.
Zucca S, Villaraggia M, Gagliardi S, Grieco GS, Valente M, Cereda C, Magni P.
BMC Bioinformatics. 2016

PaPI: pseudo amino acid composition to score human protein-coding variants.
Limongelli I, Marini S, Bellazzi R.
BMC Bioinformatics. 2015

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