The Deciphering Developmental Disorders (DDD) study.

The article focuses on the Deciphering Developmental Disorders (DDD) study, a project of the Wellcome Trust Sanger Institute and the British National Health Service's Regional Genetics Services that will perform phenotyping and genomic analysis for children with severe undiagnosed developmental disorders. The study uses the Human Phenotype Ontology (HPO) protocol to facilitate association analysis between phenotypes and genomic variants. The DDD's role in identifying the genetic basis of diseases is addressed.