This webinar will provide a brief overview of the Clinical Genome Resource (ClinGen) curation activities, with a focus on the work of expert panels in gene and variant curation. We will review the structure of ClinGen variant curation expert panels (VCEPs), the Clinical Domains and disease focus areas of ClinGen and about VCEP specifications. VCEP specifications provide expert guidance tailored for specific genes and diseases and aid in variant classification. Specifications are available for use by anyone in the genetics and genomics community, and we will overview how to find and access ClinGen VCEP curated variants and specifications. We discuss the role expert panels in building curated and clinically-relevant knowledge of the human genome.
Level of Instruction: Advanced
Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.
Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.
