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Hello, my name is Marina DiStefano, a clinical molecular genetics fellow at Harvard and a postdoc in the ClinGen Resource. This video is part one of a three-part training series on transcript annotation and curation. In this part, I will cover why transcript curation matters, using examples from the hearing loss clinical domain, and provide an overview of transcript annotation bodies and their differences. Stay tuned for part 2 for more on transcript curation resources and part 3 for a specific 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 disease.
