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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Study Protocol
Acesso em linha: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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