Author

Rodrigo de Souza Reis

Hospital Israelita Albert EinsteinORCID 0000-0002-5276-9212Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Antônio Victor Campos CoelhoiD· 1 shared Bruna Mascaro-Cordeiro· 1 shared Danielle Ribeiro Lucon· 1 shared Gustavo Santos de OliveiraiD· 1 shared João Bosco OliveiraiD· 1 shared Livia Maria Silva MouraiD· 1 shared Marcel Pinheiro CaracioloiD· 1 shared Maria Soares Nóbrega· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Antônio Victor Campos CoelhoORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineFrontiers in Molecular BiosciencesPeer-reviewedMay 2, 2022

The Brazilian Rare Genomes Project: validation of whole genome sequencing for rare diseases diagnosis

Antônio Victor Campos Coelho, Bruna Mascaro-Cordeiro, Danielle Ribeiro Lucon…·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.

41 citationstop 5%

humanwhole-genome sequencing

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