BigQ: a NoSQL based framework to handle genomic variants in i2b2

por Gabetta, Matteo, Limongelli, Ivan, Rizzo, Ettore, Riva, Alberto, Segagni, Daniele, Bellazzi, Riccardo
Publicado 2015

A Data Fusion Approach to Enhance Association Study in Epilepsy

por Marini, Simone, Limongelli, Ivan, Rizzo, Ettore, Malovini, Alberto, Errichiello, Edoardo, Vetro, Annalisa, Da, Tan, Zuffardi, Orsetta, Bellazzi, Riccardo
Publicado 2016

Comparative genomics shows that viral integrations are abundant and express piRNAs in the arboviral vectors Aedes aegypti and Aedes albopictus

por Palatini, Umberto, Miesen, Pascal, Carballar-Lejarazu, Rebeca, Ometto, Lino, Rizzo, Ettore, Tu, Zhijian, van Rij, Ronald P., Bonizzoni, Mariangela
Publicado 2017

Scalable and cost-effective NGS genotyping in the cloud

por Souilmi, Yassine, Lancaster, Alex K., Jung, Jae-Yoon, Rizzo, Ettore, Hawkins, Jared B., Powles, Ryan, Amzazi, Saaïd, Ghazal, Hassan, Tonellato, Peter J., Wall, Dennis P.
Publicado 2015

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity

por Molteni, Elisabetta, Bono, Elisa, Gallì, Anna, Elena, Chiara, Ferrari, Jacqueline, Fiorelli, Nicolas, Pozzi, Sara, Ferretti, Virginia Valeria, Sarchi, Martina, Rizzo, Ettore, Camilotto, Virginia, Boveri, Emanuela, Cazzola, Mario, Malcovati, Luca
Publicado 2023

Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance

por Varettoni, Marzia, Zibellini, Silvia, Defrancesco, Irene, Ferretti, Virginia Valeria, Rizzo, Ettore, Malcovati, Luca, Gallì, Anna, Porta, Matteo Giovanni Della, Boveri, Emanuela, Arcaini, Luca, Candido, Chiara, Paulli, Marco, Cazzola, Mario
Publicado 2017

Comprehensive kinome NGS targeted expression profiling by KING-REX

por Carapezza, Giovanni, Cusi, Carlo, Rizzo, Ettore, Raddrizzani, Laura, Di Bella, Sebastiano, Somaschini, Alessio, Leone, Antonella, Lupi, Rosita, Mutarelli, Margherita, Nigro, Vincenzo, di Bernardo, Diego, Magni, Paolo, Isacchi, Antonella, Bosotti, Roberta
Publicado 2019

Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage

por Merati, Gabriele, Rossi, Marianna, Gallì, Anna, Roncoroni, Elisa, Zibellini, Silvia, Rizzo, Ettore, Pietra, Daniela, Picone, Cristina, Rocca, Barbara, Cabrera, Claudia Patricia Tobar, Gelli, Eleonora, Santacroce, Eugenio, Arcaini, Luca, Zappasodi, Patrizia
Publicado 2021

Mutational and immunogenetic landscape of HCV‐associated B‐cell lymphoproliferative disorders

por Defrancesco, Irene, Visentini, Marcella, Zibellini, Silvia, Minafò, Ylenia Aura, Rattotti, Sara, Ferretti, Virginia Valeria, Rizzo, Ettore, Varettoni, Marzia, Frigeni, Marco, Pulsoni, Alessandro, Casato, Milvia, Colantuono, Stefania, Rossi, Marianna, Candido, Chiara, Zerbi, Caterina, Bergamini, Fabio, Cristinelli, Caterina, Fabbri, Nicole, Merli, Michele, Zuccaro, Valentina, Bruno, Raffaele, Paulli, Marco, Arcaini, Luca
Publicado 2021

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

por Stenton, Sarah L., O’Leary, Melanie, Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael, Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O.B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G, Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M, Radivojac, Predrag, Rehm, Heidi L., O’Donnell-Luria, Anne
Publicado 2023