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PER viewer tutorial N°2: Missense variant interpretation
Integrating Functional Studies into Variant Interpretation | Webinar | Ambry Genetics
Panel 2: Consistency of Interpretation of Variants Across Expert Labs/Groups, ClinVar Submissions
Use of in silico splicing predictors (Part 2)
Variant analysis in GeneGrid - stay up to date with continuous annotation
ClinGen SVI WG guidance for use of in silico predictors for missense variants.
Splicing and in silico splicing predictors
Identifying Clinically Relevant Variants and Creating Customized Reports
BroadE Workshop Missense Variants to Protein Sequence and Structure
Presentation - Use of the Genome Aggregation Database (gnomAD) (Anne O'Donnell-Luria)
Elaine Lyon - Clinical Interpretation of Sequence Variants
varvis® webinar series: The challenge of variant interpretation