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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 emphasizes the importance of transcript curation and provides examples from the hearing loss clinical domain. It discusses different transcript annotation bodies and their significance. 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. Parts 2 and 3 delve into resources and specific strategies for transcript curation in the hearing loss domain.
