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Marina DiStefano, a clinical molecular genetics fellow at Harvard, presents a three-part training series on transcript annotation and curation. Part 1 covers why transcript curation is important, focusing on examples from the hearing loss clinical domain. The overview includes an explanation of transcript annotation bodies and their differences. Gene curation is necessary for variant curation, as the impact of a variant on a gene cannot be determined if the gene is not associated with disease. Parts 2 and 3 will delve into transcript curation resources and a specific strategy used in the hearing loss domain.
