BsC Pharmacy and Biochemistry
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.
Development of a comprehensive noninvasive prenatal test
Genetics and molecular biology. 2018
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
Human mutation. 2017
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants
Clinical genetics. 2017
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
American journal of medical genetics. 2017