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

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

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...

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Bibliographic Details
Main Authors: Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani
Format: Article
Language:English
Published: BMC 2023-01-01
Series:International Journal for Equity in Health
Subjects:
Brazil
Rare diseases
Diagnosis
Exome sequencing
Screening
Whole genome sequencing
Online Access:https://doi.org/10.1186/s12939-022-01809-y

Internet

https://doi.org/10.1186/s12939-022-01809-y

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