We'll be heading to American Society for Human Genetics 2014 conference in San Diego, October 18-22. Please check out our work in the following sessions: 170. PhenomeCentral: An integrated portal for sharing patient phenotype and genotype data for rare genetic disorders. Mon Oct 20 5:30p. Concurrent Platform Session C: From Bytes To Phenotypes. Hall B1, Ground Level, Convention Center Michael Brudno will present the new data sharing portal PhenomeCentral , which facilitates the identification of phenotypically similar patients, utilizing the Human Phenotype Ontology (HPO) for linking patient phenotypes. Monarch contributes the API for the Annotation Sufficiency metric, actively develops on the HPO, and has provided user testing and documentation. Cases from our work with the NIH Intramural Undiagnosed Disease Program (UDP) have been deposited into PhenomeCentral. 1499T. Standardized phenotyping enables rapid and accurate prioritization of disease-associated and previou...

Ongoing research from the Monarch Initiative was presented by Nicole Washington at AMIA Joint Summits on Translational Bioinformatics 2014 . Podium presentation in session TBI19: Phenomic Analysis and Interpretation: Improving the Translation of Model Organism Research into Disease Diagnostics. Summary: In order to determine the underlying mechanism of a disease, animal models can often elucidate the biological underpinnings of the phenotype. We present our findings on the distribution, significance, and information characteristics necessary to enable translation of model organism research into disease diagnostic clinical applications using an ontological approach. TBI Poster presentation on Visualizing clinically similar phenotypes Summary: Numerous tools for exploring diagnoses rely on the ability to compare clinical phenotypes across patients. These inquiries can be further enhanced with comparative phenotypes from animal models. Here we present novel semantic visualization me...