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

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-MDM16]

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Mara Marongiu, Manila Deiana, Loredana Marcia, Andrea Sbardellati, Isadora Asunis, Alessandra Meloni, Andrea Angius, Roberto Cusano, Angela Loi, Francesca Crobu, Giorgio Fotia, Francesco Cucca, David Schlessinger, Laura Crisponi

Developmental Biology pages 200-211 vol. 416 num. 1 - 2016 doi: 10.1016/j.ydbio.2016.05.022

[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

[2-FOT16]

Editor’s Note

Giorgio Fotia

Communications in Applied and Industrial Mathematics De Gruyter pages 1--3 vol. 7 num. 2 - may 2016
issn: 2038-0909 doi: 10.1515/caim-2016-0001

[2-FOT16]

A note from the Editor

Giorgio Fotia

Communications in Applied and Industrial Mathematics De Gruyter pages 1--3 vol. 7 num. 1 - may 2016
issn: 2038-0909 doi: 10.1515/caim-2016-0015

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

Publications en 2015

Peer-reviewed publications in International Journals

[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

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

[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

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

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