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De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.
Maggi, Jordi; Roberts, Lisa; Koller, Samuel; Rebello, George; Berger, Wolfgang; Ramesar, Rajkumar.
Afiliação
  • Maggi J; Institute of Medical Molecular Genetic, University of Zurich, 8952 Schlieren, Switzerland.
  • Roberts L; Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, 8006 Zurich, Switzerland.
  • Koller S; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Rebello G; Institute of Medical Molecular Genetic, University of Zurich, 8952 Schlieren, Switzerland.
  • Berger W; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Ramesar R; Institute of Medical Molecular Genetic, University of Zurich, 8952 Schlieren, Switzerland.
Genes (Basel) ; 11(7)2020 07 15.
Article em En | MEDLINE | ID: mdl-32679846
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Testes Genéticos / Proteínas do Olho / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Testes Genéticos / Proteínas do Olho / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2020 Tipo de documento: Article