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Publications en 2016

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[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-R.U16]

Ricerca di geni coinvolti in immunodeficienze primarie (PID) e in malattie autoinfiammatorie (AIDs) tramite whole-exome sequencing

Marta Rusmini, ..., Paolo Uva, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - november 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

[6-PVZ16]

Scalable genomics: from Raw Data to Aligned Reads on Apache Yarn

Luca Pireddu, Francesco Versaci, Gianluigi Zanetti

Poster presentation at Big Data In Biology and Health, EMBL Heidelberg, Germany. - september 2016

[6-VPZ16]

Flink in Genomics: Efficient and scalable processing of raw Illumina BCL data

Francesco Versaci, Luca Pireddu, Gianluigi Zanetti

Presentation at workshop FlinkForward 2016 - FlinkForward 2016 - september 2016

[6-CMU16]

Lack of MIR-127 down-regulation in the transition from hematopoietic stem cells to multi-potent progenitors leads to pancytopenia and defective self-renewal

Laura Crisafulli, Sharon Muggeo, Paolo Uva, Lucia Susani, Michael Cleary, Paolo Vezzoni, Bernhard Gentner, Francesca Ficara

Poster presentation at 21st Congress of European Hematology Association, June 9-12 2016, Copenhagen - june 2016

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ...

Oral communication at ESHG 2016, Barcelona, Spain, May 20 2016 - may 2016

[6-PZ16]

The RAPI Read Aligner API

Luca Pireddu, Gianluigi Zanetti

Presentation at ISCB NGS 2016 - - april 2016

[6-MCL16]

Analisi dei questionari di gradimento dei Seminari - edizione 2015

Fabrizio Murgia, Roberta Cocco, Giuditta Lecca

- march 2016

[6-VCC16]

ELIXIR-IT: a growing support to national and international research in life sciences

Allegra Via, Davide Carnevali, Tiziana Castrignano, Alessandro Cestaro, Gianmauro Cuccuru, Gianluca della Vedova, Giacinto Donvito, Angelo Facchiano, Marco Fondi, Fulvio Galeazzi, Luana Licata, Anna Marabotti, Luciano Milanesi, Picardi Ernesto, Giuseppe Profiti, Sabrina Tommasini, Silvio Tosatto, Federico Zambelli, Graziano Pesole

Poster - Nettab 2016 - F1000Research - doi: 10.7490/f1000research.1111432.1 - march 2016

[2-VPZ16]

Scalable genomics: from raw data to aligned reads on Apache YARN

Francesco Versaci, Luca Pireddu, Gianluigi Zanetti

bioRxiv Cold Spring Harbor Labs Journals - february 2016 doi: 10.1101/071092

[6-UVA16]

Next Generation Sequencing: al gene al genoma

Paolo Uva

Invited speaker at Convegno NGS, Genova, 15 Gennaio 2016 - january 2016

Contractual reports

[7-PM16]

MAXSIMA Deliverable D3.9 CFD simulation of the safety/control rod system in the MYRRHA configuration