New Publication in Database (Oxford)!

Introducing a new publication from the Reactome team in the Database (Oxford) journal by Orlic-Milacic et al, titled “ Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes “! The study outlines Reactome’s expansion to encompass annotations for disease variants , providing insights into aberrant reactions and pathways caused by germline and somatic mutations. Aligning with the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) standards, Reactome classifies variants as benign or pathogenic, facili