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

• Main Authors: Têmis Maria Félix (Author), Carolina Fischinger Moura de Souza (Author), João Bosco Oliveira (Author), Mariana Rico-Restrepo (Author), Edmar Zanoteli (Author), Mayana Zatz (Author), Roberto Giugliani (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...