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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 focuses on the importance of transcript curation, using examples from the hearing loss clinical domain. The series outlines various transcript annotation bodies and their differences. Gene curation is necessary 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 describes a specific transcript curation strategy used in the hearing loss domain.
