Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry

PURPOSE: It has been hypothesized that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental genetic ancestry in a racially/ethnically diverse pediatric...

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Detalles Bibliográficos
Autores principales: Mavura, Yusuph, Sahin-Hodoglugil, Nuriye, Hodoglugil, Ugur, Kvale, Mark, Martin, Pierre-Marie, Van Ziffle, Jessica, Devine, W. Patrick, Ackerman, Sara L., Koenig, Barbara A, Kwok, Pui-Yan, Norton, Mary E., Slavotinek, Anne, Risch, Neil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246153/
https://www.ncbi.nlm.nih.gov/pubmed/37293051
http://dx.doi.org/10.1101/2023.05.19.23290066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246153/
https://www.ncbi.nlm.nih.gov/pubmed/37293051
http://dx.doi.org/10.1101/2023.05.19.23290066

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