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Publications en 2024

Peer-reviewed publications in International Journals

[2-XDB24]

Pervasive structural heterogeneity rewires glioblastoma chromosomes to sustain patient-specific transcriptional programs

Ting Xie, Adi Danieli-MacKay, Mariachiara Buccarelli, Mariano Barbieri, Ioanna Papadionysiou, Q. Giorgio D’Alessandris, Claudia Robens, Nadine Übelmesser, Omkar Suhas Vinchure, Liverana Lauretti, Giorgio Fotia, Roland F. Schwarz, Xiaotao Wang, Lucia Ricci-Vitiani, Jay Gopalakrishnan, Roberto Pallini, Argyris Papantonis

Nature Communications Springer Nature vol. 15 num. 3905 - may 2024 doi: 10.1038/s41467-024-48053-2

Publications en 2023

Peer-reviewed publications in International Journals

[2-CCF23]

Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study

Roberto Cherchi, Roberto Cusano, Paolo Albino Ferrari, Matteo Massidda, Giorgio Fotia, Sara De Matteis, Pierluigi Cocco

Epigenetics Insights pages 1--7 vol. 16 - april 2023 doi: 10.1177/25168657231160985

Various talks, works and publications

[2-XD.23]

Extreme structural heterogeneity rewires glioblastoma chromosomes to sustain patient-specific transcriptional programs

Ting Xie, Adi Danieli-MacKay, ..., Giorgio Fotia, . ..., Roberto Pallini, Argyris Papantonis

BiorXiv submitted to Nature Genetics - april 2023 doi: 10.1101/2023.04.20.537702

Publications en 2022

Peer-reviewed publications in International Journals

[2-AMF22]

VariantAlert: a web-based tool to notify updates in genetic variant annotations

Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva

Human Mutation - october 2022 doi: 10.1002/humu.24495

Various talks, works and publications

[6-AMP22]

Musta: a end-to-end pipeline to detect, classify and interpret mutations in cancer

Rossano Atzeni, Matteo Massidda, Enrico Pieroni, Massimo Pisu, Giorgio Fotia

Poster - European Human Genetics Conference, ESHG 2022, June 11–14, 2022, Vienna, Austria - june 2022

[6-AMP22]

A novel affordable and reliable framework for accurate detection and comprehensive analysis of somatic mutations in cancer

Rossano Atzeni, Matteo Massidda, Enrico Pieroni, Massimo Pisu, Giorgio Fotia

BITS - Annual Meeting of Bioinformatic Italian Society, Verona (Italy) - june 2022

Publications en 2021

Peer-reviewed publications in national events

[5-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 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 en 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 en 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

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