Targeted Somatic Mutation (TSM) analysis for disease-associated SNPs on all genes that are: I X Chromosome OMIM SNPs; and, II All chromosome OMIM SNPs in Clinvar database.
Available in two formats: CSV and parquet. This CSV file contains predictions from a ClinVarBERT model that classifies genetic variant submissions into three pathogenicity categories: Pathogenic/Likel
Additional file 1: Supplementary Table S1. Table S1: Details of clinical and molecular findings of the study cases. No OMIM phenotype*: Phenotype is not listed in OMIM. Likely pathogenic*: Upgraded to
Multiplexed assays of variant effects (MAVEs) guide clinical variant interpretation and reveal disease mechanisms. To date, MAVEs have focussed on a single mutation type - amino acid (AA) substitutio
