Author

Gustavo Santos de Oliveira

Hospital Israelita Albert EinsteinORCID 0000-0002-9166-3111Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Antônio Victor Campos CoelhoiD· 2 shared Livia Maria Silva MouraiD· 2 shared Marcel Pinheiro CaracioloiD· 2 shared Nuria Bengala ZurroiD· 2 shared Rafael Lucas Muniz GuedesiD· 2 shared Ana Luíza Garcia CunhaiD· 1 shared Ana Paula de Andrade OliveiraiD· 1 shared Anete Sevciovic GrumachiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antônio Victor Campos CoelhoORCID

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2 papers

Recent·Most cited

Whole Genome Sequencing for the Diagnosis of Rare Disorders

Antônio Victor Campos Coelho, Rafael Sales de Albuquerque, Catarina dos Santos Gomes, José Bandeira do Nascimento Junior, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Luciana Souto Mofatto, Rafael Lucas Muniz Guedes, Rodrigo Barreiro, Marcel Pinheiro Caraciolo, Ana Paula de Andrade Oliveira, Anne Caroline Barbosa Teixeira, Bruna Mascaro Cordeiro de Azevedo, Carolina Dias Carlos, Lucas Santos de Santana, , Joao Bosco Oliveira

This study evaluates the diagnostic yield of whole-genome sequencing in 8966 patients with suspected rare diseases, finding a 35.8% diagnostic rate and additional variant detection.

Human Genetics and Genomics Advances · May 4, 2026Peer-reviewedGenetic & Genomic Medicine

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