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Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.
Concolino, Paola; De Paolis, Elisa; Rinelli, Martina; Maneri, Giulia; Brisighelli, Francesca; Trozzi, Rita; Duranti, Simona; Giacò, Luciano; Piane, Maria; Preziosi, Alessia; Panfili, Arianna; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo.
Afiliação
  • Concolino P; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • De Paolis E; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Rinelli M; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Maneri G; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Brisighelli F; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Trozzi R; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Duranti S; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Giacò L; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Piane M; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Preziosi A; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Panfili A; Department of Woman, Child and Public Health, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Scambia G; Scientific Directorate, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • Nero C; Bioinformatics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.
  • De Bonis M; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
  • Minucci A; S. Andrea University Hospital, Rome, Italy.
Ann Lab Med ; 44(6): 617-620, 2024 Nov 01.
Article em En | MEDLINE | ID: mdl-38826062
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína BRCA1 / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Reação em Cadeia da Polimerase Multiplex Limite: Female / Humans Idioma: En Revista: Ann Lab Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína BRCA1 / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Reação em Cadeia da Polimerase Multiplex Limite: Female / Humans Idioma: En Revista: Ann Lab Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália