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...
Enregistré dans:
Auteurs principaux: | , , , , , , |
---|---|
Format: | Livre |
Publié: |
BMC,
2023-01-01T00:00:00Z.
|
Sujets: | |
Accès en ligne: | Connect to this object online. |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Internet
Connect to this object online.3rd Floor Main Library
Cote: |
A1234.567 |
---|---|
Exemplaire 1 | Disponible |