LIMONGELLI, IVAN
LIMONGELLI, IVAN
DIPARTIMENTO DI INGEGNERIA INDUSTRIALE E DELL'INFORMAZIONE
A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset
2019-01-01 Nicora, G.; Limongelli, I.; Zucca, S.; Santolisier, R.; Magni, P.; Bellazzi, R.
A Data Fusion Approach to Enhance Association Study in Epilepsy
2016-01-01 Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Malovini, ALBERTO LUIGI; Errichiello, Edoardo; Vetro, Annalisa; Da, Tan; Zuffardi, Orsetta; Bellazzi, Riccardo
A genomic data fusion framework to exploit rare and common variants for association discovery
2015-01-01 Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Da, Tan; Bellazzi, Riccardo
A kinetic model-based algorithm to classify NGS short reads by their allele origin
2015-01-01 Andrea, Marinoni; Rizzo, Ettore; Limongelli, Ivan; Gamba, PAOLO ETTORE; Bellazzi, Riccardo
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events
2015-01-01 Decio, Alice; Tonduti, Davide; Pichiecchio, Anna; Vetro, Annalisa; Ciccone, Roberto; Limongelli, Ivan; Giorda, Roberto; Caffi, Lorella; Balottin, Umberto; Zuffardi, Orsetta; Orcesi, Simona
A rule-based expert system for automatic implementation of somatic variant clinical interpretation guidelines
2019-01-01 Nicora, G.; Limongelli, I.; Cova, R.; Della Porta, M. G.; Malcovati, L.; Cazzola, M.; Bellazzi, R.
A semi-supervised learning approach for pan-cancer somatic genomic variant classification
2019-01-01 Nicora, G.; Marini, S.; Limongelli, I.; Rizzo, E.; Montoli, S.; Tricomi, F. F.; Bellazzi, R.
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation
2020-01-01 De Paoli, F.; Limongelli, I.; Rizzo, E.; Nicora, G.; Magni, P.
Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective
2018-01-01 Dagliati, Arianna; Tibollo, Valentina; Sacchi, Lucia; Malovini, Alberto; Limongelli, Ivan; Gabetta, Matteo; Napolitano, Carlo; Mazzanti, Andrea; De Cata, Pasquale; Chiovato, Luca; Priori, Silvia; Bellazzi, Riccardo
BigQ: A NoSQL based framework to handle genomic variants in i2b2
2015-01-01 Gabetta, MATTEO MARIA; Limongelli, Ivan; Rizzo, Ettore; Riva, Alberto; Segagni, Daniele; Bellazzi, Riccardo
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
2018-01-01 Nicora, Giovanna; Limongelli, Ivan; Gambelli, Patrick; Memmi, Mirella; Malovini, Alberto; Mazzanti, Andrea; Napolitano, Carlo; Priori, Silvia; Bellazzi, Riccardo
Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation.
2016-01-01 DELLA PORTA, MATTEO GIOVANNI; Galli', Anna; Bacigalupo, A; Zibellini, S; Bernardi, M; Rizzo, Ettore; Allione, B; van Lint, Mt; Pioltelli, P; Marenco, P; Bosi, A; Voso, Mt; Sica, S; Cuzzola, M; Angelucci, E; Rossi, M; Ubezio, Marta; Malovini, ALBERTO LUIGI; Limongelli, Ivan; Ferretti, VIRGINIA VALERIA; Spinelli, O; Tresoldi, C; Pozzi, S; Luchetti, S; Pezzetti, L; Catricala', Silvia; Milanesi, Clara; Riva, A; Bruno, B; Ciceri, F; Bonifazi, F; Bellazzi, Riccardo; Papaemmanuil, E; Santoro, A; Alessandrino, Ep; Rambaldi, A; Cazzola, Mario
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
2018-01-01 Vetro, Annalisa; Goidin, D.; Lesende, I.; Limongelli, Ivan; Ranzani, Guglielmina; Novara, Francesca; Bonaglia, M. C.; Rinaldi, Berardo; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, Orsetta
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P.
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Zarantonello, M.; Antonaci, Fabio; Carrabba, M.; Valente, E. M.; Magni, P.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
2015-01-01 Mina, Erika Della; Ciccone, Roberto; Brustia, Francesca; Bayindir, Baran; Limongelli, Ivan; Vetro, Annalisa; Iascone, Maria; Pezzoli, Laura; Bellazzi, Riccardo; Perotti, Gianfranco; DE GIORGIS, Valentina; Lunghi, Simona; Coppola, Giangennaro; Orcesi, Simona; Merli, Pietro; Savasta, Salvatore; Veggiotti, Pierangelo; Zuffardi, Orsetta
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
2015-01-01 Mina, E. D.; Ciccone, R.; Brustia, F.; Bayindir, B.; Limongelli, I.; Vetro, A.; Iascone, M.; Pezzoli, L.; Bellazzi, R.; Perotti, G.; De Giorgis, V.; Lunghi, S.; Coppola, G.; Orcesi, S.; Merli, P.; Savasta, S.; Veggiotti, P.; Zuffardi, O.
Kimimila: A new model to classify ngs short reads by their allele origin
2014-01-01 Marinoni, Andrea; Rizzo, Ettore; Gamba, PAOLO ETTORE; Bellazzi, Riccardo; Limongelli, Ivan
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association
2015-01-01 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
2015-01-01 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset | 1-gen-2019 | Nicora, G.; Limongelli, I.; Zucca, S.; Santolisier, R.; Magni, P.; Bellazzi, R. | |
A Data Fusion Approach to Enhance Association Study in Epilepsy | 1-gen-2016 | Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Malovini, ALBERTO LUIGI; Errichiello, Edoardo; Vetro, Annalisa; Da, Tan; Zuffardi, Orsetta; Bellazzi, Riccardo | |
A genomic data fusion framework to exploit rare and common variants for association discovery | 1-gen-2015 | Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Da, Tan; Bellazzi, Riccardo | |
A kinetic model-based algorithm to classify NGS short reads by their allele origin | 1-gen-2015 | Andrea, Marinoni; Rizzo, Ettore; Limongelli, Ivan; Gamba, PAOLO ETTORE; Bellazzi, Riccardo | |
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events | 1-gen-2015 | Decio, Alice; Tonduti, Davide; Pichiecchio, Anna; Vetro, Annalisa; Ciccone, Roberto; Limongelli, Ivan; Giorda, Roberto; Caffi, Lorella; Balottin, Umberto; Zuffardi, Orsetta; Orcesi, Simona | |
A rule-based expert system for automatic implementation of somatic variant clinical interpretation guidelines | 1-gen-2019 | Nicora, G.; Limongelli, I.; Cova, R.; Della Porta, M. G.; Malcovati, L.; Cazzola, M.; Bellazzi, R. | |
A semi-supervised learning approach for pan-cancer somatic genomic variant classification | 1-gen-2019 | Nicora, G.; Marini, S.; Limongelli, I.; Rizzo, E.; Montoli, S.; Tricomi, F. F.; Bellazzi, R. | |
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation | 1-gen-2020 | De Paoli, F.; Limongelli, I.; Rizzo, E.; Nicora, G.; Magni, P. | |
Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective | 1-gen-2018 | Dagliati, Arianna; Tibollo, Valentina; Sacchi, Lucia; Malovini, Alberto; Limongelli, Ivan; Gabetta, Matteo; Napolitano, Carlo; Mazzanti, Andrea; De Cata, Pasquale; Chiovato, Luca; Priori, Silvia; Bellazzi, Riccardo | |
BigQ: A NoSQL based framework to handle genomic variants in i2b2 | 1-gen-2015 | Gabetta, MATTEO MARIA; Limongelli, Ivan; Rizzo, Ettore; Riva, Alberto; Segagni, Daniele; Bellazzi, Riccardo | |
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases | 1-gen-2018 | Nicora, Giovanna; Limongelli, Ivan; Gambelli, Patrick; Memmi, Mirella; Malovini, Alberto; Mazzanti, Andrea; Napolitano, Carlo; Priori, Silvia; Bellazzi, Riccardo | |
Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation. | 1-gen-2016 | DELLA PORTA, MATTEO GIOVANNI; Galli', Anna; Bacigalupo, A; Zibellini, S; Bernardi, M; Rizzo, Ettore; Allione, B; van Lint, Mt; Pioltelli, P; Marenco, P; Bosi, A; Voso, Mt; Sica, S; Cuzzola, M; Angelucci, E; Rossi, M; Ubezio, Marta; Malovini, ALBERTO LUIGI; Limongelli, Ivan; Ferretti, VIRGINIA VALERIA; Spinelli, O; Tresoldi, C; Pozzi, S; Luchetti, S; Pezzetti, L; Catricala', Silvia; Milanesi, Clara; Riva, A; Bruno, B; Ciceri, F; Bonifazi, F; Bellazzi, Riccardo; Papaemmanuil, E; Santoro, A; Alessandrino, Ep; Rambaldi, A; Cazzola, Mario | |
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH | 1-gen-2018 | Vetro, Annalisa; Goidin, D.; Lesende, I.; Limongelli, Ivan; Ranzani, Guglielmina; Novara, Francesca; Bonaglia, M. C.; Rinaldi, Berardo; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, Orsetta | |
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P. | |
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Zarantonello, M.; Antonaci, Fabio; Carrabba, M.; Valente, E. M.; Magni, P. | |
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform | 1-gen-2015 | Mina, Erika Della; Ciccone, Roberto; Brustia, Francesca; Bayindir, Baran; Limongelli, Ivan; Vetro, Annalisa; Iascone, Maria; Pezzoli, Laura; Bellazzi, Riccardo; Perotti, Gianfranco; DE GIORGIS, Valentina; Lunghi, Simona; Coppola, Giangennaro; Orcesi, Simona; Merli, Pietro; Savasta, Salvatore; Veggiotti, Pierangelo; Zuffardi, Orsetta | |
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform | 1-gen-2015 | Mina, E. D.; Ciccone, R.; Brustia, F.; Bayindir, B.; Limongelli, I.; Vetro, A.; Iascone, M.; Pezzoli, L.; Bellazzi, R.; Perotti, G.; De Giorgis, V.; Lunghi, S.; Coppola, G.; Orcesi, S.; Merli, P.; Savasta, S.; Veggiotti, P.; Zuffardi, O. | |
Kimimila: A new model to classify ngs short reads by their allele origin | 1-gen-2014 | Marinoni, Andrea; Rizzo, Ettore; Gamba, PAOLO ETTORE; Bellazzi, Riccardo; Limongelli, Ivan | |
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association | 1-gen-2015 | Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta | |
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association | 1-gen-2015 | Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta |