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Marina DiStefano, a clinical molecular genetics fellow at Harvard, and a postdoc in the ClinGen Resource, presents a three-part training series on transcript annotation and curation. In part 1, she delves into why transcript curation is important, using examples from the hearing loss clinical domain. She also discusses transcript annotation bodies and their differences. Part 2 explores more on transcript curation resources, and part 3 covers a specific transcript curation strategy used in the hearing loss domain. 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 a disease.
