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Hello! I'm Marina DiStefano, a clinical molecular genetics fellow at Harvard, and part of the ClinGen Resource. In this three-part series, I will cover transcript annotation and curation. Part 1 focuses on the importance of transcript curation, using examples from the hearing loss domain. I will also discuss various transcript annotation bodies. Stay tuned for parts 2 and 3, where we will delve into curation resources and strategies for hearing loss. Gene curation is crucial for variant curation, as the impact of variants on genes may determine disease association. Check out the graph from Daniel MacArthur for a visual representation.
