Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.

Alix, Tom; Chéry, Céline; Josse, Thomas; Bronowicki, Jean-Pierre; Feillet, François; Guéant-Rodriguez, Rosa-Maria; Namour, Farès; Guéant, Jean-Louis; Oussalah, Abderrahim

Alix, Tom; Chéry, Céline; Josse, Thomas; Bronowicki, Jean-Pierre; Feillet, François; Guéant-Rodriguez, Rosa-Maria; Namour, Farès; Guéant, Jean-Louis; Oussalah, Abderrahim.

Afiliação

Alix T; Division of Biochemistry, Molecular Biology, and Nutrition, Department of Molecular Medicine, University Hospital of Nancy, 54000, Nancy, France.
Chéry C; Division of Biochemistry, Molecular Biology, and Nutrition, Department of Molecular Medicine, University Hospital of Nancy, 54000, Nancy, France.
Josse T; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
Bronowicki JP; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
Feillet F; Division of Biochemistry, Molecular Biology, and Nutrition, Department of Molecular Medicine, University Hospital of Nancy, 54000, Nancy, France.
Guéant-Rodriguez RM; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
Namour F; Department of Gastroenterology and Liver Diseases, University Hospital of Nancy, 54000, Nancy, France.
Guéant JL; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
Oussalah A; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.

Hum Genomics ; 17(1): 5, 2023 02 05.

Article em En | MEDLINE | ID: mdl-36740706

Assuntos

Testes Genéticos; Irmãos; Masculino; Humanos; Sequenciamento do Exoma; Testes Genéticos/métodos; Fenótipo; Encaminhamento e Consulta

Palavras-chave

Clinical exome sequencing; Consecutive case series; Diagnostic yield; Mendelian phenotype; Predictors of clinical utility; Reference center

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Irmãos Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Irmãos Idioma: En Ano de publicação: 2023 Tipo de documento: Article