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Marina DiStefano is a clinical molecular genetics fellow at Harvard and a postdoc in the ClinGen Resource. This tutorial is part one of a three-part series on transcript annotation and curation. Part 1 covers the importance of transcript curation, with examples from the hearing loss clinical domain, and an overview of 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 disease. Check out parts 2 and 3 for more on transcript curation resources and specific strategies used in the hearing loss domain.
