Author
Hospital Israelita Albert EinsteinORCID 0000-0001-9897-6658Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Antônio Victor Campos Coelho, Rafael Sales de Albuquerque, Catarina dos Santos Gomes…·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.
Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho…·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.
Rodrigo Barreiro, Tatiana Ferreira de Almeida, Catarina dos Santos Gomes…·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.
Á.C. Faria, Marcel Pinheiro Caraciolo, RM Minillo…·JBO Filho
Varstation provides a cloud-based tool for NGS data analysis focused on human genetic variation, offering a customizable and clinically validated environment for improving analysis workflows.