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Publications en 2016

Books and Book Chapters

[1-OCU16]

Data Mining Techniques for the Life Sciences

Massimiliano Orsini, Gianmauro Cuccuru, Paolo Uva, Giorgio Fotia

Springer, chap. Bacterial Genomic Data Analysis in the Next-Generation Sequencing Era, pages 407--422 Methods in Molecular Biology vol. 1415 - april 2016

Peer-reviewed publications in International Journals

[2-AUB16]

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016 doi: 10.1016/j.ajhg.2016.05.026

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[6-UDO16]

The importance of an Italian exome database for the study of rare diseases

Paolo Uva, Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia

Oral presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - 2016

[6-CAL16]

A robust and extensible framework for tracking biodata provenance, analysis workflows and results

Gianmauro Cuccuru, Rossano Atzeni, Luca Lianas, Ricardo Medda, Luca Pireddu, Paolo Uva, Ilenia Zara, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at Nettab, October 2016, Rome - october 2016

[6-VCC16]

ELIXIR-IT: a growing support to national and international research in life sciences

Allegra Via, Davide Carnevali, Tiziana Castrignano, Alessandro Cestaro, Gianmauro Cuccuru, Gianluca della Vedova, Giacinto Donvito, Angelo Facchiano, Marco Fondi, Fulvio Galeazzi, Luana Licata, Anna Marabotti, Luciano Milanesi, Picardi Ernesto, Giuseppe Profiti, Sabrina Tommasini, Silvio Tosatto, Federico Zambelli, Graziano Pesole

Poster - Nettab 2016 - F1000Research - doi: 10.7490/f1000research.1111432.1 - march 2016

Publications en 2015

Peer-reviewed publications in International Journals

[2-PBP15]

Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Paolo Uva, Wim Van Hul, Eveline Boudin, Andrea Superti-Furga, Flavio Faletra, Agostino Nocerino, Matteo C. Ferrari, Marta Monari, Alessandro Montanelli, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research Wiley - 2015 doi: 10.1002/jbmr.2517

[2-I.C15]

Tools and data services registry: a community effort to document bioinformatics resources

John Ison, ..., Gianmauro Cuccuru, Paolo Uva, Brunak Soren

Nucleic Acid Research - 2015 doi: 10.1093/nar/gkv1116

[2-CFM15]

Simulating Cardiac Electrophysiology Using Unstructured All-Hexahedra Spectral Elements

Gianmauro Cuccuru, Giorgio Fotia, Fabio Maggio, James Southern

Biomed Research International, Special Issue on Simulation of Heart Function, Guest Editors: Rodrigo W. dos Santos, Sergio Alonso, Elizabeth M. Cherry, Joakim Sundnes Hindawi Publishing Corporation vol. 2015 - october 2015 doi: 10.1155/2015/473279

[2-PLP15]

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

G Palomba, Alessia Loi, Eleonora Porcu, Antonio Cossu, Ilenia Zara, Mario Budroni, Mariano Dei, Sandra Lai, Antonella Mulas, N Olmeo, MT Ionta, Francesco Atzori, Gianmauro Cuccuru, Maristella Pitzalis, Magdalena Zoledziewska, N Olla, M Lovicu, M Pisano, Gonçalo R. Abecasis, Manuela Uda, Francesco Tanda, K Michailidou, DF Easton, SJ Chanock, RN Hoover, DJ Hunter, David Schlessinger, Serena Sanna, Laura Crisponi, G Palmieri

BMC Cancer - may 2015 doi: 10.1186/s12885-015-1392-9

Various talks, works and publications

[6-ZVD15]

ELIXIR-ITA: supporting the growth of bioinformatics in Italy with research, infrastructures and training.

Federico Zambelli, Allegra Via, Giacinto Donvito, Luana Licata, Tiziana Castrignano, Giuseppe Profiti, Gianmauro Cuccuru, Silvio Tosatto, Enrico Picardi, Gianluca della Vedova, Luciano Milanesi, Angelo Facchiano, Fulvio Galeazzi, Sabrina Tommasini, Graziano Pesole

Poster - Poster presentation at BITS, June 3-5 2015, Milan - 2015

[6-CUO15]

Exploiting a large scale biodata management system to support NGS variant detection studies

Gianmauro Cuccuru, Paolo Uva, Stefano Onano, Rossano Atzeni, Simone Leo, Luca Lianas, Manuela Oppo, Luca Pireddu, Andrea Angius, Laura Crisponi, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at ISMB/ECCB, 10-14 July 2015, Dublin - 2015

[6-CLL15]

Combining enabling technologies to build the largest NGS core facility in Italy

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Massimiliano Orsini, Luca Pireddu, Andrea Sbardellati, Rossano Atzeni, Roberto Cusano, Manuela Oppo, Paolo Uva, Andrea Angius, Gianluigi Zanetti, Giorgio Fotia

Invited presentation to Biodata World Congress 2015, Hinxton, Cambridge, UK - 21-22 October - 2015 - 2015

[6-PSM15]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015

[6-UPO15]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Paolo Uva, Alessandro Puddu, Manuela Oppo, Stefano Onano, Loredana Marcia, Manila Deiana, Angela Loi, Mara Marongiu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius, Laura Crisponi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015

[6-CAF15]

A Galaxy based infrastructure

Gianmauro Cuccuru, Rossano Atzeni, Giorgio Fotia, Paolo Uva, Gianluigi Zanetti

Oral presentation at ELIXIR All hands meeting - Hinxton - march 2015

Publications en 2014

Peer-reviewed publications in International Journals

[2-COP14]

Orione, a web-based framework for NGS analysis in microbiology

Gianmauro Cuccuru, Massimiliano Orsini, Andrea Pinna, Andrea Sbardellati, Nicola Soranzo, Antonella Travaglione, Paolo Uva, Gianluigi Zanetti, Giorgio Fotia

Bioinformatics Oxford University Press pages 1928-1929 vol. 30 num. 13 - 2014 doi: 10.1093/bioinformatics/btu135

[2-LPC14]

BioBlend.objects: metacomputing with Galaxy

Simone Leo, Luca Pireddu, Gianmauro Cuccuru, Luca Lianas, Nicola Soranzo, Enis Afgan, Gianluigi Zanetti

Bioinformatics Oxford University Press pages 2816-2817 vol. 30 num. 19 - 2014 doi: 10.1093/bioinformatics/btu386

Peer-reviewed publications in international events

[4-CLL14]

An Automated Infrastructure to Support High-throughput Bioinformatics

Gianmauro Cuccuru, Simone Leo, Luca Lianas, Michele Muggiri, Andrea Pinna, Luca Pireddu, Paolo Uva, Andrea Angius, Giorgio Fotia, Gianluigi Zanetti

Proc. IEEE International Conference on High Performance Computing & Simulation (HPCS 2014) IEEE pages 600-607 Smari, Waleed W. and Zeljkovic, Vesna Eds. - july 2014
isbn: 978-1-4799-5313-4 doi: 10.1109/HPCSim.2014.6903742

Various talks, works and publications

[6-PPS14]

New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations

Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

Afficher toute la liste (66 publications) Download the selection

1 2 3 .. 4