Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center

Exome sequencing (ES) became clinically available in 2011 and promised an agnostic, unbiased next-generation sequencing (NGS) platform for patients with symptoms believed to have a genetic etiology. The diagnostic yield of ES has been estimated to be between 25–40% and may be higher in specific clin...

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Detalles Bibliográficos
Autores principales: Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355124/
https://www.ncbi.nlm.nih.gov/pubmed/35937981
http://dx.doi.org/10.3389/fgene.2022.887698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355124/
https://www.ncbi.nlm.nih.gov/pubmed/35937981
http://dx.doi.org/10.3389/fgene.2022.887698

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