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Hello, my name is Marina DiStefano and Im a clinical molecular genetics fellow at Harvard, and a postdoc in the ClinGen Resource. This is part one of a three-part training series on transcript annotation and curation. Part 1 will discuss transcript annotation. This is an outline of the entire series. As I said, in this first part I will cover why transcript curation matters, citing examples from the hearing loss clinical domain. I will also provide an overview of transcript annotation bodies and their differences. Please continue on to part 2 for more discussion on transcript curation resources, and part 3 to hear about a specific transcript curation strategy that we deployed in the hearing loss domain. As many bio-curators already know, gene curation is required for variant curation. If a gene is not associated with disease, the effect of a variant on the gene cannot be determined. This is best represented by the graph on the left here, modified from Daniel MacArthur, with variant-l
