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Marina DiStefano, a clinical molecular genetics fellow at Harvard, and a postdoc in the ClinGen Resource, presents part one of a three-part training series on transcript annotation and curation. In this part, she discusses the importance of transcript curation with examples from the hearing loss clinical domain. She also provides an overview of transcript annotation bodies and their differences. Part 2 will cover more on transcript curation resources, and part 3 will discuss 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 disease.
