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

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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Bibliographic Details
Main Authors: Elizabeth K. Baker, Elizabeth A. Ulm, Alyce Belonis, Diana S. Brightman, Barbara E. Hallinan, Nancy D. Leslie, Alexander G. Miethke, Marissa Vawter-Lee, Yaning Wu, Loren D. M. Pena
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
exome sequencing
genome sequencing
post-exome clinic
sequencing reanalysis
undiagnosed disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.887698/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.887698/full

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