Author

Joana Rosa Marques Prota

Hospital Israelita Albert EinsteinORCID 0000-0002-8263-6736Unclaimed 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

Frequent Co-Authors

Anne Caroline Barbosa TeixeiraiD· 2 shared Antônio Victor Campos CoelhoiD· 2 shared Caio Robledo D’Angioli Costa QuaioiD· 2 shared Carolina MorenoiD· 2 shared Eduardo PerroneiD· 2 shared Gabriela Pereira Campilongo· 2 shared Jessica Grasiela Araujo EspolaoriD· 2 shared José Ricardo Magliocco CeroniiD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne Caroline Barbosa TeixeiraORCID

Mutual co-authors in cluster

Author profile →

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

ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencing

Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho, Marina de Franca Basto Silva, Carolina Moreno, Joana Rosa Marques Prota, Jessica Grasiela Araujo Espolaor, Michele Patricia Migliavacca, Thiago Yoshinaga Tonholo Silva, Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Kelin Chen, Renata Moldenhauer Minillo, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, , Tatiana Ferreira de Almeida

The paper analyzes ACMG secondary findings in 5,402 Brazilian genomes, finding 3.6% had pathogenic variants, mainly in cardiovascular and cancer-related genes.

Journal of Human Genetics · May 18, 2025Peer-reviewedGenetic & Genomic Medicine