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

BACKGROUND: 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 diagnosis compared to when using it later in the diagnostic pathway. However, there a...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Cho, Ahra, Lima de Carvalho, Jose Ronaldo, Tanaka, Akemi J., Jauregui, Ruben, Levi, Sarah R., Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6993391/
https://ncbi.nlm.nih.gov/pubmed/32000842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1312-1
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