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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Matalonga, Leslie; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez-Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi.
Afiliação
  • Matalonga L; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Laurie S; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Papakonstantinou A; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Piscia D; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Mereu E; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Bullich G; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Thompson R; Department of Medicine, Division of Neurology, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, Ottawa, Ontario, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Pérez-Jurado L; Hospital del Mar Research Institute (IMIM), Barcelona, Spain; Hospital del Mar Research Institute (IMIM) and Centro de Investigación Biomédica en Red-Enfermedades Raras (CIBERER), Barcelona, Spain; Women's and Children Hospital, South Australian Health and Medical Research Institute and The Universi
  • Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Gut I; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • van Ommen GJ; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Lochmüller H; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; Department of Medicine, Division of Neurology, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospit
  • Beltran S; Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; Universitat Pompeu Fabra, Barcelona, Spain. Electronic address: sergi.beltran@cnag.crg.eu.
J Mol Diagn ; 22(9): 1205-1215, 2020 09.
Article em En | MEDLINE | ID: mdl-32619640
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Doenças Raras / Sequenciamento do Exoma / Homozigoto Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Doenças Raras / Sequenciamento do Exoma / Homozigoto Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha País de publicação: Estados Unidos