Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal pat...

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Detalles Bibliográficos
Autores principales: Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C., Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N., Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10220040/
https://www.ncbi.nlm.nih.gov/pubmed/37236975
http://dx.doi.org/10.1038/s41525-023-00353-0

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