Publications CRS4

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Publications en 2017

Various talks, works and publications

[2-PPZ17]

wft4galaxy: A Workflow Tester for Galaxy

Marco Enrico Piras, Luca Pireddu, Gianluigi Zanetti

bioRxiv Cold Spring Harbor Labs Journals - july 2017 doi: 10.1101/132001

[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

[6-FFU17]

Circulating microRNAs as novel non-invasive diagnostic tool for Coeliac Disease in children

Cristina Felli, Francesca Ferretti, Paolo Uva, Valerio Nobili, Andrea Masotti

Poster presentation at ESPGHAN Meeting, May 10-13, Prague - may 2017

[6-UVA17]

Piattaforme tecnologiche NGS e applicazioni

Paolo Uva

Oral presentation at Convegno NGS nella pratica clinica oncologica, P.O Businco, 25 May 2017, Cagliari - may 2017

[6-CUS17]

Dal progetto Genoma alla NGS

Roberto Cusano

Oral presentation at Convegno NGS nella pratica clinica oncologica, P.O Businco, 25 May 2017, Cagliari - may 2017

[6-CMP17]

Experiments and Modeling of the Growth of C. sorokiniana in Lab Batch and BIOCOIL Photobioreactors for Lipid production

Alessandro Concas, Veronica Malavasi, Massimo Pisu, Santina Soru, Giacomo Cao

Presentation - ICHEAP-13, The 13th International Congress on Chemical and Process Engineering, Milan, Italy - may 2017

[4-MK17]

(U)RANS Pool Thermal Hydraulics

Vincent Moreau, Lilla Koloszar

Thermohydraulics and Chemistry of Liquid Metal Cooled Reactors the von Karman Institute for Fluid Dynamics Lecture Series 2017-02 F. Roelofs and P. Planquart NRG and the von Karman Institute for Fluid Dynamics The Netherlands and Belgium - april 2017
isbn: ISBN-13 978-2-87516-114-7

[6-UVA17]

Il sequenziamento di Nuova Generazione per lo studio delle malattie rare

Paolo Uva

Invited speaker at Malattie Rare: in tema di ricerca, 4 marzo 2017, Cagliari - march 2017

[6-PSM17]

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, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Meeting, Marzo 2017, Riva del Garda - march 2017

[6-MOR17]

WP3.1.1 Pool Thermal-hydraulics

Vincent Moreau

Presentation slides, H2020 MYRTE Project Fourth Progress Meeting, March 9 NRG Petten, Netherlands - - march 2017

[6-PM17]

Pool modelling for TALL-3D facility

Manuela Profir, Vincent Moreau

Presentation slides, H2020 SESAME Project Fourth Progress Meeting, March 6-8 NRG Petten, Netherlands - - march 2017

[6-MOR17]

Solidification modelling at CRS4

Vincent Moreau