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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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Detalles Bibliográficos
Autores principales:	Coelho, Antonio Victor Campos, Mascaro-Cordeiro, Bruna, Lucon, Danielle Ribeiro, Nóbrega, Maria Soares, Reis, Rodrigo de Souza, de Alexandre, Rodrigo Bertollo, Moura, Livia Maria Silva, de Oliveira, Gustavo Santos, Guedes, Rafael Lucas Muniz, Caraciolo, Marcel Pinheiro, Zurro, Nuria Bengala, Cervato, Murilo Castro, Oliveira, João Bosco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Molecular Biosciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108541/ https://www.ncbi.nlm.nih.gov/pubmed/35586190 http://dx.doi.org/10.3389/fmolb.2022.821582

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