Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results | Orphanet Journal of Rare Diseases | Full Text

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results | Orphanet Journal of Rare Diseases | Full Text

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results

Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagno...

Authors:Ahra Cho, Jose Ronaldo Lima de Carvalho Jr, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

Citation:Orphanet Journal of Rare Diseases 2020 15:32

Content type:Research

Published on: 30 January 2020

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