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Marina DiStefano, a clinical molecular genetics fellow at Harvard, is leading a three-part training series on transcript annotation and curation. In part 1, she discusses the importance of transcript curation, using examples from the hearing loss clinical domain. She also provides an overview of transcript annotation bodies and their differences. Part 2 will focus on transcript curation resources, and part 3 will cover a specific transcript curation strategy used in the hearing loss domain. Gene curation is essential for variant curation, as the effect of a variant on a gene cannot be determined if the gene is not associated with a disease.
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