PhD thesis, Cycle XXXVI, Supervisor Massimo Pisu, co-supervisor Enrico Pieroni
Innovation Sciences and Technologies, University of Cagliari - february 2025

Publications en 2024

Peer-reviewed publications in International Journals

[2-AMP24]

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

Rossano Atzeni, Matteo Massidda, Enrico Pieroni, Vincenzo Rallo, Massimo Pisu, Andrea Angius

International Journal of Molecular Sciences vol. 25 num. 15 - july 2024
issn: 1422-0067 doi: 10.3390/ijms25158044

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

Various talks, works and publications

[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 2020

Peer-reviewed publications in International Journals

[2-AMM20]

Genome Sequence of Beauveria bassiana Strain ATCC 74040, a Widely Employed Insect Pathogen

Rossano Atzeni, Gabriele Moro, Maria Giovanna Marche, Paolo Uva, Luca Ruiu

Microbiology Resource Announcements pages 23 num. 9 - june 2020 doi: 10.1128/MRA.00446-20

Publications en 2019

Peer-reviewed publications in International Journals

[2-AUO19]

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi

BMC Medical Genetics - 2019 doi: 10.1186/s12881-019-0745-7

[2-AUO19]

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul Hennekam, Laura Crisponi

American Journal of Medical Genetics - 2019 doi: 10.1002/ajmg.a.61052

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-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-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

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

Internal reports

[8-CA18]

Python Programming Language for Biotech

Gianmauro Cuccuru, Rossano Atzeni

- september 2018

Publications en 2017