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Marina DiStefano, a clinical molecular genetics fellow at Harvard and postdoc in ClinGen Resource, is presenting a three-part training series on transcript annotation and curation. Part 1 focuses on the importance of transcript curation, using examples from the hearing loss domain. The series will cover transcript annotation bodies, resources for curation, and a specific curation strategy for hearing loss. Gene curation is essential for variant curation, as variants' effects on genes can only be determined if the gene is associated with disease.
