The Brazilian Rare Genomes Project: validation of whole genome sequencing for rare diseases diagnosis
Antônio 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
The paper validates a whole genome sequencing protocol for diagnosing rare diseases in Brazil, showing high accuracy for SNVs and indels but limitations in detecting certain structural variants.
Frontiers in Molecular Biosciences · May 2, 2022Peer-reviewedGenetic & Genomic Medicine