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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Study Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201439/
https://www.ncbi.nlm.nih.gov/pubmed/34127041
http://dx.doi.org/10.1186/s13063-021-05341-2

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