Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

By Sebastian Köhler, Marcel H. Schulz, P. Krawitz, Sebastian Bauer, Sandra C. Dölken, C. Ott, C. Mundlos, D. Horn, Stefan Mundlos, Peter N. Robinson. American Journal of Human Genetics, 2009

542 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Improved exome prioritization of disease genes through cross-species phenotype comparison (2014, methodology): “However, the type of ontological similarity approach we adopt is robust in terms of adapting to minor errors in annotation, including imprecision, omissions, and noise (Köhler et al. 2009).”
The Human Phenotype Ontology (2010, methodology): “The mathematical details of the procedure are explained in Refs (30, 31).”
Next-generation diagnostics and disease-gene discovery with the Exomiser (2015, methodology): “Step 2B produces equivalent results and files to those in Step 2A, but here the patient phenotypes have only been compared with human phenotype data using a different algorithm (Phenomizer).”