Georgia Pitsava
Associate Project Scientist @Ambry Genetics
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WORK HISTORY
Associate Project Scientist @Ambry Genetics
US
Leading the variant interpretation process, using ACMG/AMP guidelines, for large-scale genetic data (whole genome sequencing, RNA sequencing and long-read sequencing), as part of the multi-center GREGoR Consortium; an $80 million NHGRI- funded consortium to find genetic causes of undiagnosed genetic diseases.• Developing variant curation strategies and reporting processes in collaboration with the bioinformatics team.• Leading weekly meetings for case presentation, ensuring collaborative review and discussion of variantinterpretation results. Key role in scaling up variant curation needs, contributing to an increase in diagnostic yield.
EDUCATION
Utrecht University
Summer School, Regenerative Medicine
University of Patras
ISCED 5, Medicine
ABOUT GEORGIA PITSAVA
Physician-scientist with expertise in rare disease diagnostics, with over six years of…
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