Background

PhD Bioinformatics

BsC Pharmacy and Biochemistry

 

Research

My main area of work is the interpretation of genetic sequencing data, from the raw base calls up to the biological meaning of the variants, using multi-omics databases for annotation.

I am focused on the genomic regions targeted by transcription factors, mainly PAX8.

I analyse germline DNA from ovarian cancer patients to find variants related to increased susceptibility to developing cancer.

I was part of the bioinformatics effort to sequence the DNA of elderly Brazilians (60+ SABE cohort) and collaborated in multiple pieces of research related to rare and developmental diseases.

 

Selected Publications

Development of a comprehensive noninvasive prenatal test

Genetics and molecular biology. 2018

DOI: 10.1590/1678-4685-gmb-2017-0177

 

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Human mutation. 2017

DOI: 10.1002/humu.23220

 

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants

Clinical genetics. 2017

DOI: 10.1111/cge.12823

 

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

American journal of medical genetics. 2017

DOI: 10.1002/ajmg.a.38101