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Marina DiStefano, a clinical molecular genetics fellow at Harvard and postdoc in ClinGen Resource, presents a three-part training series on transcript annotation and curation. Part 1 discusses why transcript curation is important, using examples from the hearing loss clinical domain. It also covers differences in transcript annotation bodies. 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. Further discussion on transcript curation resources and a specific strategy used in the hearing loss domain will be covered in parts 2 and 3.
