Alessandro Sulis, Vittorio Meloni, Cecilia Mascia, Franco Cappai, Caterina G. Carboni, Ernesto D`Aloja, Giorgio Fotia, Giuseppe Serra, Giovanni Sotgiu, Paolo Uva, Francesca Frexia, Gianluigi Zanetti

Conferenza GARR 2021 - Sostenibile/Digitale - Selected Papers pages 81-87 - june 2021
isbn: 978-88-946629-0-0 doi: 10.26314/GARR-Conf21-proceedings-17

Various talks, works and publications

[6-SMM21]

Integrazione dei Principi FAIR nel processo di ricerca biomedica: la creazione del Registro della Regione Sardegna

Alessandro Sulis, Vittorio Meloni, Cecilia Mascia, Franco Cappai, Caterina Giorgia Carboni, Ernesto D`Aloja, Giorgio Fotia, Giuseppe Serra, Giovanni Sotgiu, Paolo Uva, Francesca Frexia, Gianluigi Zanetti

Selected Papers - Presentation at the Conferenza GARR 2021 - Sostenibile/Digitale - 2021

[6-MCA21]

Bioinformatic NGS data analysis with solida-core

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

Poster - - august 2021

[6-AMF21]

VariantAlert: a free service to notify updates in genetic variant annotations

Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva

Poster - - august 2021

Publications in 2019

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-UAF19]

VariantAlert: A tool to notify updates in genetic variant annotations

Paolo Uva, Rossano Atzeni, Giorgio Fotia

Poster - Congresso Nazionale SIGU - 2019

[6-FUF19]

I FAIR the Sardinian way to support and fund Indipendent clinical studies that want to be Findable, Accessible, Interoperable, and Reusable

Francesca Frexia, Paolo Uva, Giorgio Fotia, Gianluigi Zanetti, Ernesto D`Aloja, Franco Cappai, Caterina Carboni

Abstract - 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 in 2018

Peer-reviewed publications in International Journals

[2-FOT18]

Modelling Practices and Practices of Modelling

Giorgio Fotia

Historical Social Research GESIS - Leibniz Institute for the Social Sciences pages 147-53 vol. Supplement 31 - 2018 doi: 10.12759/hsr.suppl.31.2018

[2-AFM18]

BITS 2017: the annual meeting of the Italian Society of Bioinformatics

Giuliano Armano, Giorgio Fotia, Andrea Manconi

BMC Bioinformatics BMC Springer NatureC pages 352 vol. 19 num. Suppl 10 - october 2018 doi: 10.1186/s12859-018-2295-y

[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

Peer-reviewed publications in international events

[4-AFM18]

Proceedings of the Italian Society of Bioinformatics (BITS) Annual Meeting 2017

Giuliano Armano, Giorgio Fotia, Andrea Manconi

BMC Bioinformatics vol. 19 num. Suppl 10 BMC Springer Nature - october 2018

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

Publications in 2017

Various talks, works and publications

[6-FOT17]

Biosciences @ CRS4

Giorgio Fotia

Oral presentation at the Giornata introduttiva della quinta edizione del Contamination Lab 2017, 26 November 2017 - november 2017

[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

Display the complete list (130 publications) Download the list

1 2 .. 7