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

Various talks, works and publications

[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

Internal reports

[8-ATC17]

Galaxy for Bioinformatics tool developers - training course material

Rossano Atzeni, Marco Antonio Tangaro, Gianmauro Cuccuru, Paolo Uva

BITS http://bioinformatics.it/ - july 2017

Publications en 2016

Various talks, works and publications

[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-CBM15]

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Sidore Carlo, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Zoledziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri, Fabrice Danjou, Alan Kwong , Rossano Atzeni, Riccardo Berutti, Frederic Reinier, Christopher M. S. Jones, Andrea Angius, Hyun Kang , John Novembre, Serena Sanna, David Schlessinger, Francesco Cucca, Gonçalo R. Abecasis

Nature Genetics - 2015

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-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

Various talks, works and publications

[6-COU14]

Unravelling the genetic causes of syndromic intellectual disability in the era of exome sequencing

Laura Crisponi, Manuela Oppo, Paolo Uva, Stefano Onano, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Ilenia Zara, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Maria Valentini, Christopher M. S. Jones, Serena Sanna, Alessia Loi, V Dessi, Chiara Perria, Valentina Pes, Gigliola Serra, Stefano Sotgiu, Andrea Angius, Francesco Cucca

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

Publications en 2013

Peer-reviewed publications in International Journals

[2-FMA13]

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

Paolo Francalacci, Laura Morelli, Andrea Angius, Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Ilenia Zara, Daria Sanna, Antonella Useli, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Manuela Oppo, Rosella Pilu, Magdalena Zoledziewska, Maristella Pitzalis, Francesca Deidda, Fausto Poddie, Han Kang, Robert Lyons, Brendan Tarrier, Bragg-Gresham J., B Li, Sergio Tofanelli, A. Alonso, Mariano Dei, Sandra Lai, Antonella Mulas, Michael Whalen, Sergio Uzzau, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Sidore Carlo, Francesco Cucca

Science pages 565-569 vol. 341 - 2013
issn: 0036-8075 doi: 10.1126/science.1237947

[2-OSC13]

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrú, Maristella Steri, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Magdalena Zoledziewska, Fabio Busonero, Antonella Mulas, Matteo Floris, Wieslawa Mentzen, Silvana Urru, michele marongiu, Stefania Olla, MG Piras, Lobina M., Andrea Maschio, Maristella Pitzalis, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Francesca Deidda, Manuela Oppo, Rosella Pilu, Frederic Reinier, Riccardo Berutti, Luca Pireddu, Ilenia Zara, Eleonora Porcu, Alan Kwong , Christine Brennan , Brendan Tarrier, Hyun Kang , Robert Lyons, Sergio Uzzau, Rossano Atzeni, Maria Valentini, Firinu D., Lidia Leoni, Gianluca Rotta, Silvia Naitza, Andrea Angius, Mauro Congia, Michael Whalen, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Edoardo Fiorillo, Serena Sanna, Francesco Cucca

Cell Elsevier Inc pages 242-256 vol. 155 num. 1 - september 2013 doi: 10.1016/j.cell.2013.08.041

Peer-reviewed publications in international events

[4-PPC13]

Genotype imputation in the era of next-generation sequencing.

Giorgio Pistis, Eleonora Porcu, Sidore Carlo, F Danjou, Maristella Steri, Antonella Mulas, Magdalena Zoledziewska, Fabio Busonero, Frederic Reinier, Rossano Atzeni, Rosella Pilu, Marco Marcelli, Brendan Tarrier, Han Kang, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Francesco Cucca, Serena Sanna

ASHG 2013, Boston, USA, October 22-26 - 2013

Publications en 2012

Peer-reviewed publications in International Journals

[2-OFS12]

Genetic factors regulating the levels of immune system cells in health and disease

Valeria Orrú, Edoardo Fiorillo, Maristella Steri, Sole Gabriella, Francesca Virdis, Mariano Dei, Sandra Lai, Antonella Mulas, M. Piras, Lobina M., Mara Marongiu, Mauro Congia, Firinu D., Michael Whalen, Sidore Carlo, Maria Francesca Urru, Fabio Busonero, Frederic Reinier, Marco Marcelli, Rossano Atzeni, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca

European Network of Immunology Institutes (ENII) - april 2012

Peer-reviewed publications in international events

[4-SOF12]

Genetic factors associated with levels of immune cell types

Maristella Steri, Valeria Orrú, Edoardo Fiorillo, Sole Gabriella, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Antonella Mulas, MG Piras, Lobina M., Mara Marongiu, Magdalena Zoledziewska, Mauro Congia, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Rossano Atzeni, Firinu D., Maria Valentini, Wieslawa Mentzen, Silvia Naitza, Michael Whalen, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca

American Society of Human Genetics/ San Francisco - Nov 6-10 - 2012

[4-SSG12]

Systematic assessment of the immune system by genetic mapping of its quantitative dimensions

Serena Sanna, Maristella Steri, Sole Gabriella, Carlo Sidore, Maria Francesca Urru, Fabio Busonero, Frederic Reinier, Mariano Dei, Sandra Lai, Francesca Virdis, Antonella Mulas, Marco Marcelli, Rossano Atzeni, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Valeria Orrú, Edoardo Fiorillo

European Human Genetics Conference - June - 2012

[4-CSK12]

Whole Genome Sequencing of 2100 Individuals in the founder Sardinian Population.

Sidore Carlo, Serena Sanna, Alan Kwong , Han Kang, Roberto Cusano, Maristella Pitzalis, Magdalena Zoledziewska, Andrea Maschio, Fabio Busonero, M. L. Lobina, Andrea Angius, Robert Lyons, C Terrier, Christine Brennan , Rossano Atzeni, Antonella Mulas, Mariano Dei, MG Piras, Sandra Lai, Frederic Reinier, Riccardo Berutti, Christopher M. S. Jones, Marco Marcelli, Maria Francesca Urru, Manuela Oppo, David Schlessinger, Gonçalo R. Abecasis, Francesco Cucca

ASHG 2012, San Francisco, USA, November 06-10. - 2012

[4-ZPZ12]

Sequencing-based and multiplatform Genome-Wide Association Study for Multiple Sclerosis and Type 1 Diabetes in Sardinians

Ilenia Zara, Eleonora Porcu, Magdalena Zoledziewska, Maristella Pitzalis, Maria Valentini, Antonella Mulas, Fabio Busonero, Rossano Atzeni, Manuela Oppo, Frederic Reinier, Riccardo Berutti, Rosella Pilu, Francesca Deidda, Carlo Sidore, Roberta Piras, Alessia Loi, Sonia Sanna, Eleonora Cocco, Fausto Poddie, Gabriele Farina, Giulio Rosati, Luca Lianas, Gianmauro Cuccuru, Gianluigi Zanetti, Andrea Angius, Maria Giovanna Marrosu, Christopher M. S. Jones, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca

ASHG (American Society of Human Genetics) 2012, San Francisco, USA - november 2012

[4-ZOC12]

Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing

Ilenia Zara, Manuela Oppo, Francesca Chiappe, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Christopher M. S. Jones, V. Dessì, Gigliola Serra, Maria Valentini, Andrea Angius, Serena Sanna, Francesco Cucca, Laura Crisponi

ESHG (European Society of Human Genetics) 2012, Nuremberg, Germany - june 2012

[4-BRA12]

QCTool: an efficient toolkit to automatically generate quality metrics of next-generation sequencing data.

Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Andrea Angius, Roberto Cusano, Marco Marcelli, Manuela Oppo, Rosella Pilu, Maria Francesca Urru, Maria Valentini, Ilenia Zara, Serena Sanna, Francesco Cucca, Christopher M. S. Jones

ESHG (European Society of Human Genetics) 2012, Nuremberg, Germany - june 2012

Publications en 2011

Various talks, works and publications

[6-PLR11]

Scaling with the flow: advantages of a MapReduce-based scalable and high-throughput sequencing workflow

Luca Pireddu, Simone Leo, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Gianluigi Zanetti

poster - International Conference on Human Genetics (ICHG) 2012, Montreal, Canada - october 2011

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