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Marina DiStefano
Director, Clinical Genomic Operations
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Broad Clinical Labs
Dr. Marina DiStefano (she/her) is a board-certified clinical molecular geneticist and is the Director of Clinical Genomic Operations at Broad Clinical Labs, which is the clinical lab based at the Broad Institute of MIT and Harvard. She is a Principal Investigator for the Clinical Genome Resource (ClinGen) and also directs the Broad-based ClinGen biocuration team and sits as a framework expert on 15 ClinGen expert panels across a range of different disease areas.
Her research interests involve testing and setting curation standards in gene curation, variant curation, and disease ontologies. In her clinical work, she focuses largely on genome sequencing and interpreting and signing out reports for rare disease patients.
Sessions
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Workshop: Enhancing Variant Analysis and Interpretation04-Jun-2026Room 51