We have had several abstracts accepted for presentation at the ACMG conference to be held in SLC in March.
- Exploring Existing Disease-to-Clinical Feature Annotations for Case-Level Phenotypic Descriptions in Genomic Databases, with the Phenotype working group at ClinVar. We explored the different groups of phenotypic terms used to describe 2 different disorders. disease-to-phenotype
- Advancing the Clinical Usefulness of Next-Generation Sequencing: Addressing the Need for Genomic Data Standards, with Ira Lubin and the NGS variant file working group (VCFclin) PosterACMGLubinEdwards
- A Comparison of Variant Effect Prediction Across Annotation Tools, with BMI and HG folks. This comparison uses the Sequence Ontology terms and relationships categorize the differences seen in annotations.
- ClinVar/ClinGen Enhance Representation of the Status of Variant Assessment. status_var_assessment