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Marina DiStefano, a clinical molecular genetics fellow at Harvard, is leading a three-part training series on transcript annotation and curation. In part one, she emphasizes the importance of transcript curation by discussing examples from the hearing loss clinical domain and providing an overview of transcript annotation bodies and their differences. She highlights the necessity of gene curation for variant curation, as the effect of a variant on a gene cannot be determined if the gene is not associated with disease. Stay tuned for parts 2 and 3 for further discussion and a specific transcript curation strategy deployed in the hearing loss domain.
