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Publications en 2021

Various talks, works and publications

[6-MCA21]

Bioinformatic NGS data analysis with solida-core

Matteo Massidda, Gianmauro Cuccuru, Rossano Atzeni, Rajesh Pal, Paolo Uva, Giorgio Fotia

Poster - - august 2021

Publications en 2019

Peer-reviewed publications in International Journals

[2-AUO19]

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi

BMC Medical Genetics - 2019 doi: 10.1186/s12881-019-0745-7

[2-AUO19]

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul Hennekam, Laura Crisponi

American Journal of Medical Genetics - 2019 doi: 10.1002/ajmg.a.61052

[2-AUO19]

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses

Andrea Angius, Paolo Uva, Manuela Oppo, I Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, ..., Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi

Clinical Genetics - 2019 doi: 10.1111/cge.13532

Various talks, works and publications

[6-CMA19]

solida.core: an open-source and ready-to-use set of bioinformatic analysis pipelines

Gianmauro Cuccuru, Matteo Massidda, Rossano Atzeni, Paolo Uva, Giorgio Fotia

o BITS 2019 16th Annual Meeting of the Bioinformatics Italian Society June 26-28, 2019, Palermo, Italy - o BITS 2019 16th Annual Meeting of the Bioinformatics Italian Society June 26-28, 2019, Palermo, Italy - 2019

[6-CUB19]

Training experience on “Data analysis and interpretation for clinical genomics” using Galaxy

Gianmauro Cuccuru, Paolo Uva, Alessandro Bruselles, Giuseppe Marangi, Tommaso Pippucci

Poster presentation at 2019 Galaxy Community Conference (GCC2019), Freiburg, Germany, 1-6 July 2019 - july 2019

[6-CMA19]

solida.core: download, deploy and use an open-source set of bioinformatic analysis pipelines

Gianmauro Cuccuru, Matteo Massidda, Rossano Atzeni, Paolo Uva, Giorgio Fotia

ISMB/ECCB 2019 Basel, Switzerland July 21 - July 25 - ISMB/ECCB 2019 Basel, Switzerland July 21 - July 25 - july 2019

[6-ACC19]

PENELOPE: a complete Laboratory Information Management System for Next Generation Sequencing Laboratories

Rossano Atzeni, Gianmauro Cuccuru, Roberto Cusano, Paolo Uva, Giorgio Fotia

Poster - Poster presentation at BITS 2019 16th Annual Meeting of the Bioinformatics Italian Society June 26-28, 2019, Palermo, Italy - june 2019

Publications en 2018

Peer-reviewed publications in International Journals

[2-ACU18]

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Andrea Angius, Silvia Cossu, Paolo Uva, Manuela Oppo, Stefano Onano, Ivana Persico, Giorgio Fotia, Rossano Atzeni, Gianmauro Cuccuru, M Asunis, Francesco Cucca, Dario Pruna, Laura Crisponi

Clinical Genetics - february 2018 doi: 10.1111/cge.13162

Various talks, works and publications

[6-CPA18]

SOLIDA: a simple bootstrapper for Next Generation bioinformatics pipelines

Gianmauro Cuccuru, Maurizio Polano, Rossano Atzeni, Paolo Uva, Giorgio Fotia

Poster presentation at BITS, Torino, 2018 - 2018

Internal reports

[8-CA18]

Python Programming Language for Biotech

Gianmauro Cuccuru, Rossano Atzeni

- september 2018

Publications en 2017

Peer-reviewed publications in International Journals

[2-CAO17]

Epileptic phenotypes related to the UNC79-UNC80- NALCN protein complex

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Laura Crisponi, Dario Pruna

Clinical cases and reviews in epilepsy Cic pages 54 - 58 - 2017 doi: 10.11138/ccre/2017.2.1.054

[2-SOI17]

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Maristella Steri, Valeria Orrú, Maria Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Sidore Carlo, Valeria Faa, Matteo Floris, ..., Roberto Cusano, Gianmauro Cuccuru, . ..., Francesco Cucca

The New England Journal of Medicine pages 1615-1626 vol. 376 - april 2017 doi: 10.1056/NEJMoa1610528

Various talks, works and publications

[6-ACL17]

Integration, processing, and data analysis in the operational support of a large scale NGS core facility

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

Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-DOA17]

The impact of an in-house Italian exome database for variant prioritization

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

Oral presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-UCA17]

Impact of sample size in variant identification from exome sequencing data

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

Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-ZMO17]

A tool suite for CNV analysis from whole exome sequencing data in Galaxy

Barbara Zonnedda, Ricardo Medda, Stefano Onano, Rossano Atzeni, Gianmauro Cuccuru, Giorgio Fotia, Paolo Uva

Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-ACU17]

Galaxy for Bioinformatics tool developers

Rossano Atzeni, Gianmauro Cuccuru, Paolo Uva

Training Course on Galaxy for Bioinformatics tool developers, Cagliari, July 3-5, 2017 - july 2017

[6-CAO17]

Fenotipo epilettico in due fratelli con mutazioni nel gene NALCN

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Dario Pruna, Laura Crisponi

Poster presentation at 40 Congresso Nazionale LICE, 7-9 giugno 2017 - june 2017

Internal reports

[8-ATC17]

Galaxy for Bioinformatics tool developers - training course material

Rossano Atzeni, Marco Antonio Tangaro, Gianmauro Cuccuru, Paolo Uva

BITS http://bioinformatics.it/ - july 2017

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

[6-COU14]

Unravelling the genetic causes of syndromic intellectual disability in the era of exome sequencing

Laura Crisponi, Manuela Oppo, Paolo Uva, Stefano Onano, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Ilenia Zara, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Maria Valentini, Christopher M. S. Jones, Serena Sanna, Alessia Loi, V Dessi, Chiara Perria, Valentina Pes, Gigliola Serra, Stefano Sotgiu, Andrea Angius, Francesco Cucca

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

[6-CUO14]

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

Laura Crisponi, Paolo Uva, Stefano Onano, Manuela Oppo, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

Publications en 2013

Peer-reviewed publications in International Journals

[2-OCC13]

The PARIGA Server for Real Time Filtering and Analysis of Reciprocal BLAST Results

Massimiliano Orsini, Simone Carcangiu, Gianmauro Cuccuru, Paolo Uva, Anna Tramontano

PLoS ONE Public Library of Science pages e62224 vol. 8 num. 5 - 2013 doi: 10.1371/journal.pone.0062224

[2-PCL13]

Automated and traceable processing for large-scale high-throughput sequencing facilities

Luca Pireddu, Gianmauro Cuccuru, Luca Lianas, Matteo Vocale, Giorgio Fotia, Gianluigi Zanetti

EMBnet.journal pages 23--24 vol. 19 Supplement A - june 2013
issn: 2226-6089 doi: 10.14806/ej.19.A.626

Peer-reviewed publications in international events

[4-CFM13]

Reproducible and automated processing in high-throughput NGS facilities

Gianmauro Cuccuru, Giorgio Fotia, Josh Moore, Luca Lianas, Luca Pireddu, Jason R. Swedlow, Gianluigi Zanetti

Contributed presentation at the Galaxy Community Conference 2013, Oslo,Norway - 30 June, 2 July - 201 - 2013

[4-CFL13]

Scalability, Reproducibility and Traceability in Large Scale NGS Facilities

Gianmauro Cuccuru, Giorgio Fotia, Simone Leo, Luca Lianas, Massimiliano Orsini, Andrea Pinna, Luca Pireddu, Andrea Sbardellati, Nicola Soranzo, Paolo Uva, Gianluigi Zanetti

Contributed presentation to Clinical Genomics & Informatics Europe, Lisbon, Portugal - 4, 6 December - 2013

Various talks, works and publications

[6-COS13]

Engaging Galaxy in Microbiology

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

Poster presentation at the Galaxy Community Conference 2013, Oslo,Norway - 30 June, 2 July - 2013

[6-SOC13]

Microbiome profiling on a Galaxy-based framework for Microbiology

Nicola Soranzo, Stefano Onano, Gianmauro Cuccuru, Massimiliano Orsini, Andrea Pinna, Andrea Sbardellati, Paolo Uva, Giorgio Fotia

Poster presentation at the Galaxy Community Conference 2013, Oslo,Norway - 30 June, 2 July - 2013

[6-OOC13]

Comparison of computational pipelines for microbiome profiling

Stefano Onano, Massimiliano Orsini, Gianmauro Cuccuru, Paolo Uva

Poster and invited talk at the Microbiota and Immunity in Human Diseases (MIHD-OBG 2013) international symposium, Rome, Italy, May 3-4 - 2013

Publications en 2012

Peer-reviewed publications in international events

[4-CFM12]

Simulating human cardial electrophysiology with unstructured all-hexahedral spectral elements

Gianmauro Cuccuru, Giorgio Fotia, Fabio Maggio

Contributed presentation to the Minisymposium on Mathematical Modeling in Biomedicine, SIMAI 2012 International Conference on Applied and Industrial Mathematics, Torino (Italy), June 25 - 28 - 2012

[4-ACL12]

Scalable data management and computable framework for large scale longitudinal studies

Chris Allan, Gianmauro Cuccuru, Simone Leo, Luca Lianas, Josh Moore, Maristella Pitzalis, Serena Sanna, Ilenia Zara, Jason R. Swedlow, Gianluigi Zanetti

Contributed presentation to Galaxy Community Conference 2012, Chicago (IL), United States - July 25 - 27 - 2012

[4-ZPZ12]

Sequencing-based and multiplatform Genome-Wide Association Study for Multiple Sclerosis and Type 1 Diabetes in Sardinians

Ilenia Zara, Eleonora Porcu, Magdalena Zoledziewska, Maristella Pitzalis, Maria Valentini, Antonella Mulas, Fabio Busonero, Rossano Atzeni, Manuela Oppo, Frederic Reinier, Riccardo Berutti, Rosella Pilu, Francesca Deidda, Carlo Sidore, Roberta Piras, Alessia Loi, Sonia Sanna, Eleonora Cocco, Fausto Poddie, Gabriele Farina, Giulio Rosati, Luca Lianas, Gianmauro Cuccuru, Gianluigi Zanetti, Andrea Angius, Maria Giovanna Marrosu, Christopher M. S. Jones, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca

ASHG (American Society of Human Genetics) 2012, San Francisco, USA - november 2012

Various talks, works and publications

[6-CFM12]

Simulation of human cardiac electrophysiology with unstructured all-hexahedral spectral elements

Gianmauro Cuccuru, Giorgio Fotia, Fabio Maggio

Poster presentation at the 2012 International CAE conference, October 22-23, Lazise (VR), Italy - 2012

[6-CFM12]

Elettrocardiologia computazionale: modellistica e simulazione

Gianmauro Cuccuru, Giorgio Fotia, Fabio Maggio

Contributed presentation to "Due Giornate di Matematica Applicata" Workshop, 16-17 October, 2012, Dipartimento di Matematica e Informatica dell'Università degli Studi di Cagliari, Cagliari, (Italy) - october 2012

[5-CUC12]

A comprehensive approach to support data management and computable framework for large scale longitudinal studies

Gianmauro Cuccuru

Collana seminari interni 2012 num. 20120704 - july 2012

Contractual reports

[7-OCU12]

A course in Next Generation Sequencing data analysis using Galaxy

Massimiliano Orsini, Gianmauro Cuccuru, Paolo Uva, Vincenzo De Leo, Andrea Pinna, Andrea Sbardellati, Nicola Soranzo, Antonella Travaglione, Giorgio Fotia

CRS4 Course and praticals material, IZS G. Caporale, Teramo - november 2012

[7-CDO12]

Case Studies in Bioinformatics

Gianmauro Cuccuru, Alberto de la Fuente, Massimiliano Orsini, Antonella Travaglione, Paolo Uva, Giorgio Fotia

CRS4 Course and practical session, Master in Bioinformatica, Università di Cagliari, 2012 - october 2012

Publications en 2011

Peer-reviewed publications in international events

[4-CFM11]

High-performance spectral-element simulation of cardiac electrical function using GPUs

Gianmauro Cuccuru, Giorgio Fotia, Fabio Maggio

Proceedings of SC2011, International Conference on Scientific Computing, S. Margherita di Pula, Cagliari, Italy October 10-14, 2011 - 2011

Various talks, works and publications

[6-LCL11]

Scalable Data Management and Computable Framework for Large Scale Longitudinal Studies.

Luca Lianas, Gianmauro Cuccuru, Simone Leo, Ilenia Zara, Maristella Pitzalis, Magdalena Zoledziewska, Francesca Deidda, Serena Sanna, Gianluigi Zanetti

poster - 12th International Congress of Human Genetics (ICHG) - october 2011

Contractual reports

[7-CFM11]

CardioELSE version 1.1 user manual

Gianmauro Cuccuru, Giorgio Fotia, Fabio Maggio

CRS4, Center for Advanced Studies, Research and Development in Sardinia Cagliari, Italy num. 11/08 techreport - may 2011

Publications en 2010

Peer-reviewed publications in International Journals

[2-SPZ10]

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Serena Sanna, Maristella Pitzalis, Magdalena Zoledziewska, Ilenia Zara, Carlo Sidore, Raffaele Murru, Michael Whalen, Fabio Busonero, Andrea Maschio, Gianna Costa, Maria Cristina Melis, Francesca Deidda, Fausto Poddie, Laura Morelli, Gabriele Farina, Yun Li, Mariano Dei, Sandra Lai, Antonella Mulas, Gianmauro Cuccuru, Eleonora Porcu, Liming Liang, Patrizia Zavattari, Loredana Moi, Elisa Deriu, Maria Francesca Urru, Michele Bajorek, Maria Anna Satta, Eleonora Cocco, Paola Ferrigno, Stefano Sotgiu, Maura Pugliatti, Sebastiano Traccis, Andrea Angius, Maurizio Melis, Giulio Rosati, Gonçalo R. Abecasis, Manuela Uda, Maria Giovanna Marrosu, David Schlessinger, Francesco Cucca

Nature Genetics Nature Publishing Group pages 495–497 vol. 42 - may 2010 doi: 10.1038/ng.584

Peer-reviewed publications in international events

[4-MSF10]

A 3D Spectral Element Solver for the Bidomain Equations

Fabio Maggio, James Southern, Giorgio Fotia, Gianmauro Cuccuru

Proc. of the 1st Virtual Physiological Human Conference - VPH2010, 30 September - 1 October 2010 Brussels, Belgium pages 360--362 - july 2010

Various talks, works and publications

[6-ZCL10]

COBIK - COMPUTABLE BIOBANKS

Gianluigi Zanetti, Gianmauro Cuccuru, Luca Lianas, Simone Leo, Riccardo Triunfo

Poster - IFHRO 2010 - XVI Congress of International Federation of Health Records Organizations - november 2010

[6-ZCL10]

Computable Biobanks

Gianluigi Zanetti, Gianmauro Cuccuru, Luca Lianas, Simone Leo

poster - Bridging the Gap in Biomedical Genetics: Integrating Bioinformatics and Medical Informatics, Research and Healthcare - october 2010

Contractual reports

[7-BCC10]

Requirements and technology assessment

Miguel Bernabeu, Jonathan Cooper, Gianmauro Cuccuru, Katherine Fletcher, Giorgio Fotia, Fabio Maggio, Ross Nobes, James Southern, Geoff Williams

Deliverable D5.2 EU Project PREDICT (ICT-2007-2-224381) techreport - november 2010

Publications en 2009

Peer-reviewed publications in international events

[4-CGM09]

Fast low-memory streaming mls reconstruction of point-sampled surfaces

Gianmauro Cuccuru, Enrico Gobbetti, Fabio Marton, Renato Pajarola, Ruggero Pintus

Graphics Interface pages 15--22 - may 2009

66 publications Download the selection