Large-scale testing of nearly all possible AGXT missense variant effects in the reference allele and in a double mutant background (the minor allele: Pro11Leu, Ile340Met)

Adrine de Souza

Roth Lab, University of Toronto

Presentation Date: 3 October 2023

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Adrine is a PhD student at The University of Toronto in the Department of Molecular Genetics. Supervised by Dr. Fritz Roth, she is leading to large-scale variant effect testing of the VHL and AGXT genes. Using VAMP-seq and yeast complementation assays she is providing evidence for variant interpretation of renal cell carcinoma, VHL disease and Primary Hyperoxaluria Type I patients. Adrine completed undergraduate studies in Biotechnology in Brazil and participated in an exchange program in Boston. She is interested in scientific communication, implementation of evidence-based care and teaching.

Social: @adrinedesouza