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

Human Genomics

Research

Thomas Josse¹  Tom Alix¹  Céline Chéry²  Abderrahim Oussalah²  Jean-Louis Guéant²  Rosa-Maria Guéant-Rodriguez²  Farès Namour²  Jean-Pierre Bronowicki³  François Feillet⁴ 

[1] Division of Biochemistry, Molecular Biology, and Nutrition, Department of Molecular Medicine, University Hospital of Nancy, 54000, Nancy, France;Division of Biochemistry, Molecular Biology, and Nutrition, Department of Molecular Medicine, University Hospital of Nancy, 54000, Nancy, France;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;Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France;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;Department of Gastroenterology and Liver Diseases, University Hospital of Nancy, 54000, Nancy, France;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;Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France;Department of Pediatrics, University Hospital of Nancy, 54000, Nancy, France;

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

DOI  :  10.1186/s40246-023-00455-x

 received in 2022-09-25, accepted in 2023-01-28,  发布年份 2023

来源: Springer

【 授权许可】

CC BY   
© The Author(s) 2023

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