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PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.
Roca, Iria; González-Castro, Lorena; Maynou, Joan; Palacios, Lourdes; Fernández, Helena; Couce, Mª Luz; Fernández-Marmiesse, Ana.
Afiliação
  • Roca I; University of Santiago de Compostela (USC), Spain. Genomes and Disease Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Santiago de Compostela, Spain; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases (UDyTEMC) from Pediatric Department, Hospital Clínico
  • González-Castro L; Galician Research and Development Center in Advanced Telecomunications, GRADIANT, Vigo, Spain.
  • Maynou J; Progenika Biopharma, a Grifols company, Derio, Spain.
  • Palacios L; Progenika Biopharma, a Grifols company, Derio, Spain.
  • Fernández H; Galician Research and Development Center in Advanced Telecomunications, GRADIANT, Vigo, Spain.
  • Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases (UDyTEMC) from Pediatric Department, Hospital Clínico Universitario de Santiago de Compostela, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Spain.
  • Fernández-Marmiesse A; University of Santiago de Compostela (USC), Spain. Genomes and Disease Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Santiago de Compostela, Spain; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases (UDyTEMC) from Pediatric Department, Hospital Clínico
Genomics ; 112(2): 1245-1256, 2020 03.
Article em En | MEDLINE | ID: mdl-31349009
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Testes Genéticos / Análise de Sequência de DNA / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Testes Genéticos / Análise de Sequência de DNA / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2020 Tipo de documento: Article