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In this video tutorial series, Marina DiStefano, a clinical molecular genetics fellow at Harvard, discusses the importance of transcript curation and annotation in the context of genetic research. Part 1 focuses on why transcript curation matters, with examples from the hearing loss clinical domain. She also provides an overview of transcript annotation bodies and their differences. The series will continue in part 2 with more discussion on transcript curation resources, and in part 3 with a specific transcript curation strategy deployed in the hearing loss domain. Gene curation is essential for variant curation, as the effects of a variant on a gene can only be determined if the gene is associated with disease. This concept is illustrated by a graph modified from Daniel MacArthur.
