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PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio sequencing data applied to RPE65.
Sorrentino, Elisa; Albion, Elena; Modena, Chiara; Daja, Muharrem; Cecchin, Stefano; Paolacci, Stefano; Miertus, Jan; Bertelli, Matteo; Maltese, Paolo Enrico; Chiurazzi, Pietro; Stuppia, Liborio; Colombo, Leonardo; Marceddu, Giuseppe.
Afiliação
  • Sorrentino E; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy; Structural Biology Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro, 2, 53100 Siena, Italy. Electronic address: elisa.sorrentino@assomagi.org.
  • Albion E; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy. Electronic address: elena.albion@assomagi.org.
  • Modena C; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy. Electronic address: chiara.modena@assomagi.org.
  • Daja M; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy. Electronic address: muharrem.daja@assomagi.org.
  • Cecchin S; MAGI'S LAB, Via delle Maioliche, 57/D, 38068 Rovereto, TN, Italy. Electronic address: laboratorio@assomagi.org.
  • Paolacci S; MAGI'S LAB, Via delle Maioliche, 57/D, 38068 Rovereto, TN, Italy. Electronic address: stefano.paolacci@assomagi.org.
  • Miertus J; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy; MAGI'S LAB, Via delle Maioliche, 57/D, 38068 Rovereto, TN, Italy. Electronic address: jan.miertus@assomagi.org.
  • Bertelli M; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy; MAGI'S LAB, Via delle Maioliche, 57/D, 38068 Rovereto, TN, Italy. Electronic address: matteo.bertelli@assomagi.org.
  • Maltese PE; MAGI'S LAB, Via delle Maioliche, 57/D, 38068 Rovereto, TN, Italy. Electronic address: paolo.maltese@assomagi.org.
  • Chiurazzi P; Università Cattolica del Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Largo Francesco Vito, 1, 00168 Rome, Italy; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC Genetica Medica, Largo Agostino Gemelli 8, 00168 Rome, Italy. Electronic add
  • Stuppia L; Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G. D'Annunzio" University, Chieti-Pescara, Via dei Vestini, 31, 66100 Chieti, Italy. Electronic address: stuppia@unich.it.
  • Colombo L; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Via Antonio di Rudinì, 8, 20142 Milan, Italy. Electronic address: leonardo.colombo.82@gmail.com.
  • Marceddu G; MAGI EUREGIO, Via Maso delle Pieve, 60/A, 39100 Bolzano, Italy. Electronic address: giuseppe.marceddu@assomagi.org.
Gene ; 832: 146554, 2022 Jul 20.
Article em En | MEDLINE | ID: mdl-35569774
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Amaurose Congênita de Leber / Distrofias Retinianas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Gene Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Amaurose Congênita de Leber / Distrofias Retinianas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Gene Ano de publicação: 2022 Tipo de documento: Article