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The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis

Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Rare Genomes Project is envisioned to further the implementation of genomic medicine into the Brazilian public healthcare system. Here we report the validation results of a whole genome sequencing (WGS) procedure for implem...

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Главные авторы: Antonio Victor Campos Coelho, Bruna Mascaro-Cordeiro, Danielle Ribeiro Lucon, Maria Soares Nóbrega, Rodrigo de Souza Reis, Rodrigo Bertollo de Alexandre, Livia Maria Silva Moura, Gustavo Santos de Oliveira, Rafael Lucas Muniz Guedes, Marcel Pinheiro Caraciolo, Nuria Bengala Zurro, Murilo Castro Cervato, João Bosco Oliveira
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2022-05-01
Серии:Frontiers in Molecular Biosciences
Предметы:
rare diseases
precision medicine
genomics
genetic diagnostic test
whole genome sequencing
Online-ссылка:https://www.frontiersin.org/articles/10.3389/fmolb.2022.821582/full
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