annotating-variants
maziyarpanahi/openmed
This skill transforms raw genomic identifiers (VCF, HGVS, rsID) into highly annotated, consequence-predicted records. It utilizes powerful, open-source tools like Ensembl VEP and gnomAD to predict variant consequences (e.g., missense, nonsense), map coordinates, and attach population allele frequencies. Furthermore, it links these molecular findings to clinical and phenotype context extracted by OpenMed, forming a comprehensive research record.