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

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 suspected genet...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Trials
Main Authors: Staley, Brooke S., Milko, Laura V., Waltz, Margaret, Griesemer, Ida, Mollison, Lonna, Grant, Tracey L., Farnan, Laura, Roche, Myra, Navas, Angelo, Lightfoot, Alexandra, Foreman, Ann Katherine M., O’Daniel, Julianne M., O’Neill, Suzanne C., Lin, Feng-Chang, Roman, Tamara S., Brandt, Alicia, Powell, Bradford C., Rini, Christine, Berg, Jonathan S., Bensen, Jeannette T.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Study Protocol
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8201439/
https://ncbi.nlm.nih.gov/pubmed/34127041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13063-021-05341-2
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