Associate Professor Washington University School of Medicine St. Louis, Missouri, United States
Session Description: Explore the dynamic interplay of cancer variant curation in this session. The session will demonstrate SC-VCEPs' variant curation prowess, examine somatic cancer variant classifications, and explore AI's potential in curation. Gain insights into tailoring published guidelines, assessing oncogenicity of fusions, and analyzing protein domains and functional data. By the session's end, you'll master variant and fusion evaluation, embrace fusion oncogenicity categories, and adeptly appraise clinical and oncogenetic significance. In addition, the session will highlight the innovative CIViC platform's role in expert crowdsourcing. Discover new interface features, delve into curating significant variants, and grasp the art of disseminating interpretations to the community. We'll also delve into the potential of automating curation using artificial intelligence.
Learning Objectives:
Upon completion, participants will be able to understand how the CIViC platform facilitates expert crowdsourcing for cancer variant curation, including new interface features, variant significance curation, and community dissemination.
Upon completion, participants will be able to discuss recent initiatives to enhance somatic cancer variant classifications, including the integration of curated interpretations into ClinVar and the potential role of artificial intelligence in automating curation.
Upon completion, participants will be able to demonstrate proficiency in evaluating the clinical and oncogenic impact of SNVs and fusions, comprehend the crucial categories for assessing fusion oncogenicity, and appraise the relevance of functional data in determining clinical or oncogenetic significance.
