Phenotypic spectrum of dual diagnoses in developmental disorders.

Abstract excerpt

As more patients receive genome-wide sequencing, the number of individuals diagnosed with multiple monogenic conditions is increasing. We sought to investigate the relative phenotypic contribution of dual diagnoses using both manual curation and computational approaches. First, we computed 1,003,236 semantic similarity scores for all possible pairs of 1,417 genes in the Developmental Disorder Gene2Phenotype...

Topics

Join the communities discussing this publication.

• Databases, Genetic
• Developmental Disabilities
• Phenotype