Author

Rodrigo Barreiro

Universidade de São PauloORCID 0000-0001-8909-4100Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Antônio Victor Campos CoelhoiD· 2 shared Catarina dos Santos GomesiD· 2 shared Marcel Pinheiro CaracioloiD· 2 shared Tatiana Ferreira de AlmeidaiD· 2 shared Allysson Allan de FariasiD· 1 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 · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antônio Victor Campos CoelhoORCID

Mutual co-authors in cluster

Author profile →

3 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

Sandy: A user-friendly and versatile NGS simulator to facilitate sequencing assay design and optimization

Thiago L. A. Miller, Helena B. Conceição, Rafael L. V. Mercuri, Felipe R. C. dos Santos, Rodrigo Barreiro, José Leonel Buzzo, Fernanda Orpinelli Ramos do Rego, Gabriela D. A. Guardia, Pedro A. F. Galante

Sandy generates synthetic NGS reads to help design and optimize sequencing assays by simulating various data features and answering key analytical questions.

bioRxiv · Aug 25, 2023 · PreprintBioinformatics

Assessing the risk stratification of breast cancer polygenic risk scores in two Brazilian samples

Rodrigo Barreiro, Tatiana Ferreira de Almeida, Catarina dos Santos Gomes, Frederico Monfardini, Allysson Allan de Farias, Gabriela Chiuffa Tunes, GM Souza, Etienne Duim, JS Correia, Antônio Victor Campos Coelho, Marcel Pinheiro Caraciolo, YAO Duarte, Mayana Zatz, Edson Amaro, JB Oliveira, , Michel Satya Naslavsky

This study evaluates the transferability of a breast cancer polygenic risk score in two Brazilian admixed cohorts compared to UK Biobank data, finding inflated PRS distributions and equivalent predictive power in case-control comparisons.

medRxiv · Sep 9, 2022 · PreprintGenetic & Genomic Medicine