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In this video tutorial series, Marina DiStefano, a clinical molecular genetics fellow at Harvard, introduces the topic of transcript annotation and curation. Part 1 focuses on the importance of transcript curation, using examples from the hearing loss clinical domain. It covers the overview of transcript annotation bodies and their differences. Part 2 will dive into more discussion on transcript curation resources, while Part 3 will explore a specific transcript curation strategy in the hearing loss domain. Gene curation is essential for variant curation, as the effect of a variant on a gene can only be determined if the gene is associated with a disease.
