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Marina DiStefano, a clinical molecular genetics fellow at Harvard, and a postdoc in the ClinGen Resource, introduces a three-part training series on transcript annotation and curation. Part 1 focuses on why transcript curation is important, using examples from the hearing loss clinical domain. The video covers an overview of 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 a disease. Stay tuned for parts 2 and 3 for more information on transcript curation resources and specific strategies used in the hearing loss domain.
