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Marina DiStefano is a clinical molecular genetics fellow at Harvard and a part of the ClinGen Resource. This three-part training series focuses on transcript annotation and curation. Part 1 addresses the importance of transcript curation, using examples from the hearing loss clinical domain. It also explores different transcript annotation bodies. Gene curation is crucial for variant curation, as the effects of a variant on a gene are dependent on its association with a disease. Stay tuned for parts 2 and 3 for further discussions and strategies in transcript curation.
