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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 the importance of transcript curation, using examples from the hearing loss clinical domain. An overview of transcript annotation bodies and their differences is provided. Gene curation is essential for variant curation, as the effect of a variant on a gene can only be determined if the gene is associated with disease. Part 2 will cover transcript curation resources, and part 3 will discuss a specific transcript curation strategy used in the hearing loss domain.
