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Marina DiStefano, a clinical molecular genetics fellow at Harvard and a postdoc in ClinGen Resource, presents a three-part training series on transcript annotation and curation. Part 1 covers why transcript curation is important, using examples from the hearing loss clinical domain. It also discusses different transcript annotation bodies. 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 the disease. Continue to parts 2 and 3 for more on transcript curation resources and specific strategies in the hearing loss domain.
