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Marina DiStefano, a clinical molecular genetics fellow at Harvard, introduces a three-part training series on transcript annotation and curation. Part 1 focuses on why transcript curation is important, using examples from the hearing loss clinical domain. It also provides an overview of transcript annotation bodies and their differences. Gene curation is essential for variant curation, as the effect of a variant on a gene cannot be determined if the gene is not associated with disease. Part 2 discusses transcript curation resources, while part 3 covers a specific transcript curation strategy used in the hearing loss domain.
