Combined Annotation Dependent Depletion

The Combined Annotation Dependent Depletion (CADD) score is a numerical measure used in genetics to predict the deleteriousness, or harmfulness, of genetic variants.

Using machine learning models, CADD combines genomic features derived from surrounding sequence context, gene model annotations, evolutionary constraint, epigenetic measurements and functional predictions to estimate the likelihood that a given genetic variant will have a harmful effect on protein function or lead to a disease phenotype.

Imagine you’re a scientist studying genetic mutations in a particular gene associated with a rare disease. You’ve identified a mutation located in a critical region of the gene that codes for an essential protein. Now you want to assess its potential impact on protein function and disease risk.

After running the variant through the CADD tool, you obtain a CADD score of 25. This score indicates that the variant is predicted to be among the top 25% most deleterious variants in the human genome, suggesting a high likelihood of it causing a harmful effect or contributing to disease.

For more information, please visit: https://cadd.gs.washington.edu/.