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Marina DiStefano, a clinical molecular genetics fellow at Harvard and postdoc in ClinGen, introduces a three-part training series on transcript annotation and curation. This first part focuses on the importance of transcript curation, using examples from the hearing loss clinical domain. It covers 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 without disease association. Stay tuned for parts 2 and 3 for more in-depth discussions and strategies in the hearing loss domain.
