Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

Abstract Background Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report describes the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspect...

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Bibliographic Details
Main Authors: Brooke S. Staley, Laura V. Milko, Margaret Waltz, Ida Griesemer, Lonna Mollison, Tracey L. Grant, Laura Farnan, Myra Roche, Angelo Navas, Alexandra Lightfoot, Ann Katherine M. Foreman, Julianne M. O’Daniel, Suzanne C. O’Neill, Feng-Chang Lin, Tamara S. Roman, Alicia Brandt, Bradford C. Powell, Christine Rini, Jonathan S. Berg, Jeannette T. Bensen
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Trials
Subjects:
Precision medicine
Sequencing
Under-represented populations
Clinical trial
Genetic disease
Diagnostic odyssey
Online Access:https://doi.org/10.1186/s13063-021-05341-2

Internet

https://doi.org/10.1186/s13063-021-05341-2

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