Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten t...

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Detalles Bibliográficos
Autores principales: Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837951/
https://www.ncbi.nlm.nih.gov/pubmed/36639662
http://dx.doi.org/10.1186/s12939-022-01809-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837951/
https://www.ncbi.nlm.nih.gov/pubmed/36639662
http://dx.doi.org/10.1186/s12939-022-01809-y

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