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Publications en 2017

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

Publications en 2016

Peer-reviewed publications in International Journals

[2-DLF16]

A Scalable Data Access Layer to Manage Structured Heterogeneous Biomedical Data

Giovanni Delussu, Luca Lianas, Francesca Frexia, Gianluigi Zanetti

PLoS ONE plos one - december 2016 doi: 10.1371/journal.pone.0168004

[2-LPM16]

CyTest - A new platform for training and testing in cytopathology

Luca Lianas, Marco Enrico Piras, Elodia Musu, Simona Podda, Francesca Frexia, Emanuela Ovcin, Giovanni Bussolati, Gianluigi Zanetti

The Diagnostic pathology Journal pages 208 vol. 2 - august 2016
issn: 2364 - 4893 doi: 10.17629/www.diagnosticpathology.eu-2016-2:208

[2-LPM16]

CyTest – An Innovative Open-source Platform for Training and Testing in Cythopathology

Luca Lianas, Marco Enrico Piras, Elodia Musu, Simona Podda, Francesca Frexia, Emanuela Ovcin, Giovanni Bussolati, Gianluigi Zanetti

Procedia - Social and Behavioral Sciences pages 674–681 vol. 228 - july 2016 doi: 10.1016/j.sbspro.2016.07.103

Various talks, works and publications

[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

Publications en 2015

Various talks, works and publications

[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

Publications en 2014

Peer-reviewed publications in International Journals

[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-LFD14]

pyEHR: A scalable clinical data management toolkit for biomedical research projects

Luca Lianas, Francesca Frexia, Giovanni Delussu, Paolo Anedda, Gianluigi Zanetti

e-Health Networking, Applications and Services (Healthcom), 2014 IEEE 16th International Conference on E-health Networking, Application & Services IEEE pages 370-374 - october 2014 doi: 10.1109/HealthCom.2014.7001871

[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

Publications en 2013

Peer-reviewed publications in International Journals

[2-FMA13]

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

Paolo Francalacci, Laura Morelli, Andrea Angius, Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Ilenia Zara, Daria Sanna, Antonella Useli, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Manuela Oppo, Rosella Pilu, Magdalena Zoledziewska, Maristella Pitzalis, Francesca Deidda, Fausto Poddie, Han Kang, Robert Lyons, Brendan Tarrier, Bragg-Gresham J., B Li, Sergio Tofanelli, A. Alonso, Mariano Dei, Sandra Lai, Antonella Mulas, Michael Whalen, Sergio Uzzau, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Sidore Carlo, Francesco Cucca

Science pages 565-569 vol. 341 - 2013
issn: 0036-8075 doi: 10.1126/science.1237947

[2-OSC13]

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrú, Maristella Steri, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Magdalena Zoledziewska, Fabio Busonero, Antonella Mulas, Matteo Floris, Wieslawa Mentzen, Silvana Urru, michele marongiu, Stefania Olla, MG Piras, Lobina M., Andrea Maschio, Maristella Pitzalis, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Francesca Deidda, Manuela Oppo, Rosella Pilu, Frederic Reinier, Riccardo Berutti, Luca Pireddu, Ilenia Zara, Eleonora Porcu, Alan Kwong , Christine Brennan , Brendan Tarrier, Hyun Kang , Robert Lyons, Sergio Uzzau, Rossano Atzeni, Maria Valentini, Firinu D., Lidia Leoni, Gianluca Rotta, Silvia Naitza, Andrea Angius, Mauro Congia, Michael Whalen, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Edoardo Fiorillo, Serena Sanna, Francesco Cucca

Cell Elsevier Inc pages 242-256 vol. 155 num. 1 - september 2013 doi: 10.1016/j.cell.2013.08.041

[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

Publications en 2012

Peer-reviewed publications in International Journals

[2-ABM12]

OMERO: flexible, model-driven data management for experimental biology

Chris Allan, Jean-Marie Burel, Josh Moore, Colin Blackburn, Melissa Linkert, Scott Loynton, Donald MacDonald, William J. Moore, Carlos Neves, Andrew Patterson, Michael Porter, Aleksandra Tarkowska, Brian Loranger, Jerome Avondo, Ingvar Lagerstedt, Luca Lianas, Simone Leo, Katherine Hands, Ron T. Hay, Ardan Patwardhan, Christoph Best, Gerard J. Kleywegt, Gianluigi Zanetti, Jason R. Swedlow

Nature Methods pages 245--253 vol. 9 num. 3 - march 2012
issn: 1548-7091 doi: 10.1038/nmeth.1896

[2-NPS12]

A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation

Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D. Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Zoledziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L. Longo, Edward Lakatta, Gonçalo R. Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca

PloS Genetics vol. 8 - january 2012 doi: 10.1371/journal.pgen.1002480

Peer-reviewed publications in international events

[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-CSK12]

Whole Genome Sequencing of 2100 Individuals in the founder Sardinian Population.

Sidore Carlo, Serena Sanna, Alan Kwong , Han Kang, Roberto Cusano, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Maschio, Fabio Busonero, M. L. Lobina, Andrea Angius, Robert Lyons, C Terrier, Christine Brennan , Rossano Atzeni, Antonella Mulas, Mariano Dei, MG Piras, Sandra Lai, Frederic Reinier, Riccardo Berutti, Christopher M. S. Jones, Marco Marcelli, Maria Francesca Urru, Manuela Oppo, David Schlessinger, Gonçalo R. Abecasis, Francesco Cucca

ASHG 2012, San Francisco, USA, November 06-10. - 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

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