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

• Auteurs principaux: Têmis Maria Félix (Auteur), Carolina Fischinger Moura de Souza (Auteur), João Bosco Oliveira (Auteur), Mariana Rico-Restrepo (Auteur), Edmar Zanoteli (Auteur), Mayana Zatz (Auteur), Roberto Giugliani (Auteur)
• Format: Livre
• Publié: BMC, 2023-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract 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...